The Counsyl Foresight™ Carrier Screen is a physician-prescribed DNA screen performed on a blood or saliva sample. This screen provides information about whether you are a carrier of an inherited disease, such as cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome. A carrier is typically a healthy individual with no family history of the disease he/she is carrying. If parents are carriers of the same genetic condition their baby has a one in four chance of inheriting that disease.
Disease List:
11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia
21-hydroxylase-deficient Congenital Adrenal Hyperplasia
6-pyruvoyl-tetrahydropterin Synthase Deficiency
ABCC8-related Hyperinsulinism
Achondrogenesis Type 1B
Adenosine Deaminase Deficiency
Alkaptonuria
Alpha Thalassemia
Alpha-1 Antitrypsin Deficiency
Alpha-mannosidosis
Alpha-sarcoglycanopathy
Alstrom Syndrome
AMT-related Glycine Encephalopathy
Andermann Syndrome
Argininemia
Argininosuccinic Aciduria
ARSACS
Aspartylglycosaminuria
Ataxia with Vitamin E Deficiency
Ataxia-telangiectasia
ATP7A-related Disorders
Autosomal Recessive Osteopetrosis Type 1
Bardet-Biedl Syndrome, BBS1-related
Bardet-Biedl Syndrome, BBS10-related
Bardet-Biedl Syndrome, BBS12-related
Bardet-Biedl Syndrome, BBS2-related
Beta-sarcoglycanopathy
Biotinidase Deficiency
Bloom Syndrome
Calpainopathy
Canavan Disease
Carbamoylphosphate Synthetase I Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency
Cartilage-hair Hypoplasia
Cerebrotendinous Xanthomatosis
Choroideremia
Citrullinemia Type 1
CLN3-related Neuronal Ceroid Lipofuscinosis
CLN5-related Neuronal Ceroid Lipofuscinosis
CLN6-related Neuronal Ceroid Lipofuscinosis
CNGB3-related Achromatopsia
Cohen Syndrome
COL4A3-related Alport Syndrome
COL4A4-related Alport Syndrome
Congenital Disorder of Glycosylation Type Ia
Congenital Disorder of Glycosylation Type Ib
Congenital Disorder of Glycosylation Type Ic
Congenital Finnish Nephrosis
Costeff Optic Atrophy Syndrome
Cystic Fibrosis
Cystinosis
D-bifunctional Protein Deficiency
Diastrophic Dysplasia
Dihydropyrimidine Dehydrogenase Deficiency
Dysferlinopathy
Dystrophinopathy (Including Duchenne/Becker Muscular Dystrophy)
ERCC6-related Disorders
ERCC8-related Disorders
EVC-related Ellis-van Creveld Syndrome
EVC2-related Ellis-van Creveld Syndrome
Fabry Disease
* Factor V Leiden Thrombophilia
Factor XI Deficiency
Familial Dysautonomia
Familial Mediterranean Fever
Fanconi Anemia Type C
FKRP-related Disorders
FKTN-related Disorders
Fragile X Syndrome
Galactokinase Deficiency
Galactosemia
Gamma-sarcoglycanopathy
Gaucher Disease
GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness
GLB1-related Disorders
GLDC-related Glycine Encephalopathy
* Glucose-6-phosphate Dehydrogenase Deficiency
Glutaric Acidemia Type 1
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type III
Glycogen Storage Disease Type V
GNPTAB-related Disorders
GRACILE Syndrome
HADHA-related Disorders
Hb Beta Chain-related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease)
Hereditary Fructose Intolerance
Herlitz Junctional Epidermolysis Bullosa, LAMA3-related
Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
Hexosaminidase A Deficiency (Including Tay-Sachs Disease)
* HFE-associated Hereditary Hemochromatosis
HMG-CoA Lyase Deficiency
Holocarboxylase Synthetase Deficiency
Homocystinuria Caused by Cystathionine Beta-synthase Deficiency
Hydrolethalus Syndrome
Hypophosphatasia, Autosomal Recessive
Inclusion Body Myopathy 2
Isovaleric Acidemia
Joubert Syndrome 2
KCNJ11-related Familial Hyperinsulinism
Krabbe Disease
LAMA2-related Muscular Dystrophy
Leigh Syndrome, French-Canadian Type
Lipoamide Dehydrogenase Deficiency
Lipoid Congenital Adrenal Hyperplasia
Lysosomal Acid Lipase Deficiency
Maple Syrup Urine Disease Type 1B
Maple Syrup Urine Disease Type Ia
Maple Syrup Urine Disease Type II
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Metachromatic Leukodystrophy
Methylmalonic Acidemia, cblA Type
Methylmalonic Acidemia, cblB Type
Methylmalonic Aciduria and Homocystinuria, cblC Type
* Mild Hyperhomocysteinemia Caused by MTHFR Deficiency
MKS1-related Disorders
Mucolipidosis III Gamma
Mucolipidosis IV
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIC
Muscle-eye-brain Disease
MUT-related Methylmalonic Acidemia
MYO7A-related Disorders
NEB-related Nemaline Myopathy
Niemann-Pick Disease Type C
Niemann-Pick Disease Type C2
Niemann-Pick Disease, SMPD1-associated
Nijmegen Breakage Syndrome
Northern Epilepsy
Ornithine Transcarbamylase Deficiency
PCCA-related Propionic Acidemia
PCDH15-related Disorders
Pendred Syndrome
Peroxisome Biogenesis Disorder Type 3
Peroxisome Biogenesis Disorder Type 4
Peroxisome Biogenesis Disorder Type 5
Peroxisome Biogenesis Disorder Type 6
PEX1-related Zellweger Syndrome Spectrum
Phenylalanine Hydroxylase Deficiency
PKHD1-related Autosomal Recessive Polycystic Kidney Disease
Polyglandular Autoimmune Syndrome Type 1
Pompe Disease
PPT1-related Neuronal Ceroid Lipofuscinosis
Primary Carnitine Deficiency
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3
PROP1-related Combined Pituitary Hormone Deficiency
* Prothrombin Thrombophilia
* Pseudocholinesterase Deficiency
Pycnodysostosis
Pyruvate Carboxylase Deficiency
Recessive Multiple Epiphyseal Dysplasia
Rhizomelic Chondrodysplasia Punctata Type 1
RTEL1-related Disorders
Salla Disease
Sandhoff Disease
Segawa Syndrome
Short Chain Acyl-CoA Dehydrogenase Deficiency
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spastic Paraplegia Type 15
Spinal Muscular Atrophy
Spondylothoracic Dysostosis
Steroid-resistant Nephrotic Syndrome
Sulfate Transporter-related Osteochondrodysplasia
TGM1-related Autosomal Recessive Congenital Ichthyosis
TPP1-related Neuronal Ceroid Lipofuscinosis
Tyrosinemia Type I
Tyrosinemia Type II
USH1C-related Disorders
USH2A-related Disorders
Usher Syndrome Type 3
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Wilson Disease
X-linked Adrenoleukodystrophy
X-linked Alport Syndrome
X-linked Juvenile Retinoschisis
X-linked Myotubular Myopathy
X-linked Severe Combined Immunodeficiency
Xeroderma Pigmentosum Group A
Xeroderma Pigmentosum Group C
* Must be specifically requested to be included on your panel.
Synonyms
Foresight Carrier Screen
Supplemental Test Request Form Required
Yes
Sample Type
Whole blood
Collect
Lavender-top
Amount to Collect
4 mL
Preferred Volume
4 mL
Minimum Volume
4 mL
Remarks
Only use tube supplied in kit from Counsyl.
Stability (from collection to initiation)
5 days
Rejection Criteria
No Counsyl collection kit when patient presents.
Test Code
ECS
Sendout
Yes
Performing Lab
Counsyl
Specimen Preparation
Use only tube supplied in kit from Counsyl. Replace full tube back into kit with completed Counsyl TRF.
Preferred Volume
4 mL
Minimum Volume
4 mL
Rejection Criteria
No Counsyl collection kit when patient presents.
Stability (from collection to initiation)
5 days
Additional Information
The Counsyl Foresight™ Carrier Screen is a physician-prescribed DNA screen performed on a blood or saliva sample. This screen provides information about whether you are a carrier of an inherited disease, such as cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome. A carrier is typically a healthy individual with no family history of the disease he/she is carrying. If parents are carriers of the same genetic condition their baby has a one in four chance of inheriting that disease.
Disease List:
11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia
21-hydroxylase-deficient Congenital Adrenal Hyperplasia
6-pyruvoyl-tetrahydropterin Synthase Deficiency
ABCC8-related Hyperinsulinism
Achondrogenesis Type 1B
Adenosine Deaminase Deficiency
Alkaptonuria
Alpha Thalassemia
Alpha-1 Antitrypsin Deficiency
Alpha-mannosidosis
Alpha-sarcoglycanopathy
Alstrom Syndrome
AMT-related Glycine Encephalopathy
Andermann Syndrome
Argininemia
Argininosuccinic Aciduria
ARSACS
Aspartylglycosaminuria
Ataxia with Vitamin E Deficiency
Ataxia-telangiectasia
ATP7A-related Disorders
Autosomal Recessive Osteopetrosis Type 1
Bardet-Biedl Syndrome, BBS1-related
Bardet-Biedl Syndrome, BBS10-related
Bardet-Biedl Syndrome, BBS12-related
Bardet-Biedl Syndrome, BBS2-related
Beta-sarcoglycanopathy
Biotinidase Deficiency
Bloom Syndrome
Calpainopathy
Canavan Disease
Carbamoylphosphate Synthetase I Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency
Cartilage-hair Hypoplasia
Cerebrotendinous Xanthomatosis
Choroideremia
Citrullinemia Type 1
CLN3-related Neuronal Ceroid Lipofuscinosis
CLN5-related Neuronal Ceroid Lipofuscinosis
CLN6-related Neuronal Ceroid Lipofuscinosis
CNGB3-related Achromatopsia
Cohen Syndrome
COL4A3-related Alport Syndrome
COL4A4-related Alport Syndrome
Congenital Disorder of Glycosylation Type Ia
Congenital Disorder of Glycosylation Type Ib
Congenital Disorder of Glycosylation Type Ic
Congenital Finnish Nephrosis
Costeff Optic Atrophy Syndrome
Cystic Fibrosis
Cystinosis
D-bifunctional Protein Deficiency
Diastrophic Dysplasia
Dihydropyrimidine Dehydrogenase Deficiency
Dysferlinopathy
Dystrophinopathy (Including Duchenne/Becker Muscular Dystrophy)
ERCC6-related Disorders
ERCC8-related Disorders
EVC-related Ellis-van Creveld Syndrome
EVC2-related Ellis-van Creveld Syndrome
Fabry Disease
* Factor V Leiden Thrombophilia
Factor XI Deficiency
Familial Dysautonomia
Familial Mediterranean Fever
Fanconi Anemia Type C
FKRP-related Disorders
FKTN-related Disorders
Fragile X Syndrome
Galactokinase Deficiency
Galactosemia
Gamma-sarcoglycanopathy
Gaucher Disease
GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness
GLB1-related Disorders
GLDC-related Glycine Encephalopathy
* Glucose-6-phosphate Dehydrogenase Deficiency
Glutaric Acidemia Type 1
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type III
Glycogen Storage Disease Type V
GNPTAB-related Disorders
GRACILE Syndrome
HADHA-related Disorders
Hb Beta Chain-related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease)
Hereditary Fructose Intolerance
Herlitz Junctional Epidermolysis Bullosa, LAMA3-related
Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
Hexosaminidase A Deficiency (Including Tay-Sachs Disease)
* HFE-associated Hereditary Hemochromatosis
HMG-CoA Lyase Deficiency
Holocarboxylase Synthetase Deficiency
Homocystinuria Caused by Cystathionine Beta-synthase Deficiency
Hydrolethalus Syndrome
Hypophosphatasia, Autosomal Recessive
Inclusion Body Myopathy 2
Isovaleric Acidemia
Joubert Syndrome 2
KCNJ11-related Familial Hyperinsulinism
Krabbe Disease
LAMA2-related Muscular Dystrophy
Leigh Syndrome, French-Canadian Type
Lipoamide Dehydrogenase Deficiency
Lipoid Congenital Adrenal Hyperplasia
Lysosomal Acid Lipase Deficiency
Maple Syrup Urine Disease Type 1B
Maple Syrup Urine Disease Type Ia
Maple Syrup Urine Disease Type II
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Metachromatic Leukodystrophy
Methylmalonic Acidemia, cblA Type
Methylmalonic Acidemia, cblB Type
Methylmalonic Aciduria and Homocystinuria, cblC Type
* Mild Hyperhomocysteinemia Caused by MTHFR Deficiency
MKS1-related Disorders
Mucolipidosis III Gamma
Mucolipidosis IV
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIC
Muscle-eye-brain Disease
MUT-related Methylmalonic Acidemia
MYO7A-related Disorders
NEB-related Nemaline Myopathy
Niemann-Pick Disease Type C
Niemann-Pick Disease Type C2
Niemann-Pick Disease, SMPD1-associated
Nijmegen Breakage Syndrome
Northern Epilepsy
Ornithine Transcarbamylase Deficiency
PCCA-related Propionic Acidemia
PCDH15-related Disorders
Pendred Syndrome
Peroxisome Biogenesis Disorder Type 3
Peroxisome Biogenesis Disorder Type 4
Peroxisome Biogenesis Disorder Type 5
Peroxisome Biogenesis Disorder Type 6
PEX1-related Zellweger Syndrome Spectrum
Phenylalanine Hydroxylase Deficiency
PKHD1-related Autosomal Recessive Polycystic Kidney Disease
Polyglandular Autoimmune Syndrome Type 1
Pompe Disease
PPT1-related Neuronal Ceroid Lipofuscinosis
Primary Carnitine Deficiency
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3
PROP1-related Combined Pituitary Hormone Deficiency
* Prothrombin Thrombophilia
* Pseudocholinesterase Deficiency
Pycnodysostosis
Pyruvate Carboxylase Deficiency
Recessive Multiple Epiphyseal Dysplasia
Rhizomelic Chondrodysplasia Punctata Type 1
RTEL1-related Disorders
Salla Disease
Sandhoff Disease
Segawa Syndrome
Short Chain Acyl-CoA Dehydrogenase Deficiency
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spastic Paraplegia Type 15
Spinal Muscular Atrophy
Spondylothoracic Dysostosis
Steroid-resistant Nephrotic Syndrome
Sulfate Transporter-related Osteochondrodysplasia
TGM1-related Autosomal Recessive Congenital Ichthyosis
TPP1-related Neuronal Ceroid Lipofuscinosis
Tyrosinemia Type I
Tyrosinemia Type II
USH1C-related Disorders
USH2A-related Disorders
Usher Syndrome Type 3
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Wilson Disease
X-linked Adrenoleukodystrophy
X-linked Alport Syndrome
X-linked Juvenile Retinoschisis
X-linked Myotubular Myopathy
X-linked Severe Combined Immunodeficiency
Xeroderma Pigmentosum Group A
Xeroderma Pigmentosum Group C
* Must be specifically requested to be included on your panel.
CPT Codes
81479
Available Stat
No
Test Code
ECS
Performing Lab
Counsyl
Sendout
Yes
Methodology
Full Exon Sequencing
Remarks
Only use tube supplied in kit from Counsyl.
Collect
Lavender-top
Amount to Collect
4 mL
Sample Type
Whole blood
Preferred Volume
4 mL
Minimum Volume
4 mL
Rejection Criteria
No Counsyl collection kit when patient presents.
Specimen Preparation
Use only tube supplied in kit from Counsyl. Replace full tube back into kit with completed Counsyl TRF.
Synonyms
Foresight Carrier Screen
Stability (from collection to initiation)
5 days
Reported
2 weeks
Additional Information
The Counsyl Foresight™ Carrier Screen is a physician-prescribed DNA screen performed on a blood or saliva sample. This screen provides information about whether you are a carrier of an inherited disease, such as cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome. A carrier is typically a healthy individual with no family history of the disease he/she is carrying. If parents are carriers of the same genetic condition their baby has a one in four chance of inheriting that disease.
Disease List:
11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia
21-hydroxylase-deficient Congenital Adrenal Hyperplasia
6-pyruvoyl-tetrahydropterin Synthase Deficiency
ABCC8-related Hyperinsulinism
Achondrogenesis Type 1B
Adenosine Deaminase Deficiency
Alkaptonuria
Alpha Thalassemia
Alpha-1 Antitrypsin Deficiency
Alpha-mannosidosis
Alpha-sarcoglycanopathy
Alstrom Syndrome
AMT-related Glycine Encephalopathy
Andermann Syndrome
Argininemia
Argininosuccinic Aciduria
ARSACS
Aspartylglycosaminuria
Ataxia with Vitamin E Deficiency
Ataxia-telangiectasia
ATP7A-related Disorders
Autosomal Recessive Osteopetrosis Type 1
Bardet-Biedl Syndrome, BBS1-related
Bardet-Biedl Syndrome, BBS10-related
Bardet-Biedl Syndrome, BBS12-related
Bardet-Biedl Syndrome, BBS2-related
Beta-sarcoglycanopathy
Biotinidase Deficiency
Bloom Syndrome
Calpainopathy
Canavan Disease
Carbamoylphosphate Synthetase I Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency
Cartilage-hair Hypoplasia
Cerebrotendinous Xanthomatosis
Choroideremia
Citrullinemia Type 1
CLN3-related Neuronal Ceroid Lipofuscinosis
CLN5-related Neuronal Ceroid Lipofuscinosis
CLN6-related Neuronal Ceroid Lipofuscinosis
CNGB3-related Achromatopsia
Cohen Syndrome
COL4A3-related Alport Syndrome
COL4A4-related Alport Syndrome
Congenital Disorder of Glycosylation Type Ia
Congenital Disorder of Glycosylation Type Ib
Congenital Disorder of Glycosylation Type Ic
Congenital Finnish Nephrosis
Costeff Optic Atrophy Syndrome
Cystic Fibrosis
Cystinosis
D-bifunctional Protein Deficiency
Diastrophic Dysplasia
Dihydropyrimidine Dehydrogenase Deficiency
Dysferlinopathy
Dystrophinopathy (Including Duchenne/Becker Muscular Dystrophy)
ERCC6-related Disorders
ERCC8-related Disorders
EVC-related Ellis-van Creveld Syndrome
EVC2-related Ellis-van Creveld Syndrome
Fabry Disease
* Factor V Leiden Thrombophilia
Factor XI Deficiency
Familial Dysautonomia
Familial Mediterranean Fever
Fanconi Anemia Type C
FKRP-related Disorders
FKTN-related Disorders
Fragile X Syndrome
Galactokinase Deficiency
Galactosemia
Gamma-sarcoglycanopathy
Gaucher Disease
GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness
GLB1-related Disorders
GLDC-related Glycine Encephalopathy
* Glucose-6-phosphate Dehydrogenase Deficiency
Glutaric Acidemia Type 1
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type III
Glycogen Storage Disease Type V
GNPTAB-related Disorders
GRACILE Syndrome
HADHA-related Disorders
Hb Beta Chain-related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease)
Hereditary Fructose Intolerance
Herlitz Junctional Epidermolysis Bullosa, LAMA3-related
Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
Hexosaminidase A Deficiency (Including Tay-Sachs Disease)
* HFE-associated Hereditary Hemochromatosis
HMG-CoA Lyase Deficiency
Holocarboxylase Synthetase Deficiency
Homocystinuria Caused by Cystathionine Beta-synthase Deficiency
Hydrolethalus Syndrome
Hypophosphatasia, Autosomal Recessive
Inclusion Body Myopathy 2
Isovaleric Acidemia
Joubert Syndrome 2
KCNJ11-related Familial Hyperinsulinism
Krabbe Disease
LAMA2-related Muscular Dystrophy
Leigh Syndrome, French-Canadian Type
Lipoamide Dehydrogenase Deficiency
Lipoid Congenital Adrenal Hyperplasia
Lysosomal Acid Lipase Deficiency
Maple Syrup Urine Disease Type 1B
Maple Syrup Urine Disease Type Ia
Maple Syrup Urine Disease Type II
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Metachromatic Leukodystrophy
Methylmalonic Acidemia, cblA Type
Methylmalonic Acidemia, cblB Type
Methylmalonic Aciduria and Homocystinuria, cblC Type
* Mild Hyperhomocysteinemia Caused by MTHFR Deficiency
MKS1-related Disorders
Mucolipidosis III Gamma
Mucolipidosis IV
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIC
Muscle-eye-brain Disease
MUT-related Methylmalonic Acidemia
MYO7A-related Disorders
NEB-related Nemaline Myopathy
Niemann-Pick Disease Type C
Niemann-Pick Disease Type C2
Niemann-Pick Disease, SMPD1-associated
Nijmegen Breakage Syndrome
Northern Epilepsy
Ornithine Transcarbamylase Deficiency
PCCA-related Propionic Acidemia
PCDH15-related Disorders
Pendred Syndrome
Peroxisome Biogenesis Disorder Type 3
Peroxisome Biogenesis Disorder Type 4
Peroxisome Biogenesis Disorder Type 5
Peroxisome Biogenesis Disorder Type 6
PEX1-related Zellweger Syndrome Spectrum
Phenylalanine Hydroxylase Deficiency
PKHD1-related Autosomal Recessive Polycystic Kidney Disease
Polyglandular Autoimmune Syndrome Type 1
Pompe Disease
PPT1-related Neuronal Ceroid Lipofuscinosis
Primary Carnitine Deficiency
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3
PROP1-related Combined Pituitary Hormone Deficiency
* Prothrombin Thrombophilia
* Pseudocholinesterase Deficiency
Pycnodysostosis
Pyruvate Carboxylase Deficiency
Recessive Multiple Epiphyseal Dysplasia
Rhizomelic Chondrodysplasia Punctata Type 1
RTEL1-related Disorders
Salla Disease
Sandhoff Disease
Segawa Syndrome
Short Chain Acyl-CoA Dehydrogenase Deficiency
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spastic Paraplegia Type 15
Spinal Muscular Atrophy
Spondylothoracic Dysostosis
Steroid-resistant Nephrotic Syndrome
Sulfate Transporter-related Osteochondrodysplasia
TGM1-related Autosomal Recessive Congenital Ichthyosis
TPP1-related Neuronal Ceroid Lipofuscinosis
Tyrosinemia Type I
Tyrosinemia Type II
USH1C-related Disorders
USH2A-related Disorders
Usher Syndrome Type 3
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Wilson Disease
X-linked Adrenoleukodystrophy
X-linked Alport Syndrome
X-linked Juvenile Retinoschisis
X-linked Myotubular Myopathy
X-linked Severe Combined Immunodeficiency
Xeroderma Pigmentosum Group A
Xeroderma Pigmentosum Group C
* Must be specifically requested to be included on your panel.
CPT Codes
81479
Supplemental Test Request Form Required
Yes
Ordering
Available Stat
No
Performing Lab
Counsyl
Methodology
Full Exon Sequencing
Reported
2 weeks
Additional Information
The Counsyl Foresight™ Carrier Screen is a physician-prescribed DNA screen performed on a blood or saliva sample. This screen provides information about whether you are a carrier of an inherited disease, such as cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome. A carrier is typically a healthy individual with no family history of the disease he/she is carrying. If parents are carriers of the same genetic condition their baby has a one in four chance of inheriting that disease.
Disease List:
11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia
21-hydroxylase-deficient Congenital Adrenal Hyperplasia
6-pyruvoyl-tetrahydropterin Synthase Deficiency
ABCC8-related Hyperinsulinism
Achondrogenesis Type 1B
Adenosine Deaminase Deficiency
Alkaptonuria
Alpha Thalassemia
Alpha-1 Antitrypsin Deficiency
Alpha-mannosidosis
Alpha-sarcoglycanopathy
Alstrom Syndrome
AMT-related Glycine Encephalopathy
Andermann Syndrome
Argininemia
Argininosuccinic Aciduria
ARSACS
Aspartylglycosaminuria
Ataxia with Vitamin E Deficiency
Ataxia-telangiectasia
ATP7A-related Disorders
Autosomal Recessive Osteopetrosis Type 1
Bardet-Biedl Syndrome, BBS1-related
Bardet-Biedl Syndrome, BBS10-related
Bardet-Biedl Syndrome, BBS12-related
Bardet-Biedl Syndrome, BBS2-related
Beta-sarcoglycanopathy
Biotinidase Deficiency
Bloom Syndrome
Calpainopathy
Canavan Disease
Carbamoylphosphate Synthetase I Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency
Cartilage-hair Hypoplasia
Cerebrotendinous Xanthomatosis
Choroideremia
Citrullinemia Type 1
CLN3-related Neuronal Ceroid Lipofuscinosis
CLN5-related Neuronal Ceroid Lipofuscinosis
CLN6-related Neuronal Ceroid Lipofuscinosis
CNGB3-related Achromatopsia
Cohen Syndrome
COL4A3-related Alport Syndrome
COL4A4-related Alport Syndrome
Congenital Disorder of Glycosylation Type Ia
Congenital Disorder of Glycosylation Type Ib
Congenital Disorder of Glycosylation Type Ic
Congenital Finnish Nephrosis
Costeff Optic Atrophy Syndrome
Cystic Fibrosis
Cystinosis
D-bifunctional Protein Deficiency
Diastrophic Dysplasia
Dihydropyrimidine Dehydrogenase Deficiency
Dysferlinopathy
Dystrophinopathy (Including Duchenne/Becker Muscular Dystrophy)
ERCC6-related Disorders
ERCC8-related Disorders
EVC-related Ellis-van Creveld Syndrome
EVC2-related Ellis-van Creveld Syndrome
Fabry Disease
* Factor V Leiden Thrombophilia
Factor XI Deficiency
Familial Dysautonomia
Familial Mediterranean Fever
Fanconi Anemia Type C
FKRP-related Disorders
FKTN-related Disorders
Fragile X Syndrome
Galactokinase Deficiency
Galactosemia
Gamma-sarcoglycanopathy
Gaucher Disease
GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness
GLB1-related Disorders
GLDC-related Glycine Encephalopathy
* Glucose-6-phosphate Dehydrogenase Deficiency
Glutaric Acidemia Type 1
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type III
Glycogen Storage Disease Type V
GNPTAB-related Disorders
GRACILE Syndrome
HADHA-related Disorders
Hb Beta Chain-related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease)
Hereditary Fructose Intolerance
Herlitz Junctional Epidermolysis Bullosa, LAMA3-related
Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
Hexosaminidase A Deficiency (Including Tay-Sachs Disease)
* HFE-associated Hereditary Hemochromatosis
HMG-CoA Lyase Deficiency
Holocarboxylase Synthetase Deficiency
Homocystinuria Caused by Cystathionine Beta-synthase Deficiency
Hydrolethalus Syndrome
Hypophosphatasia, Autosomal Recessive
Inclusion Body Myopathy 2
Isovaleric Acidemia
Joubert Syndrome 2
KCNJ11-related Familial Hyperinsulinism
Krabbe Disease
LAMA2-related Muscular Dystrophy
Leigh Syndrome, French-Canadian Type
Lipoamide Dehydrogenase Deficiency
Lipoid Congenital Adrenal Hyperplasia
Lysosomal Acid Lipase Deficiency
Maple Syrup Urine Disease Type 1B
Maple Syrup Urine Disease Type Ia
Maple Syrup Urine Disease Type II
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Metachromatic Leukodystrophy
Methylmalonic Acidemia, cblA Type
Methylmalonic Acidemia, cblB Type
Methylmalonic Aciduria and Homocystinuria, cblC Type
* Mild Hyperhomocysteinemia Caused by MTHFR Deficiency
MKS1-related Disorders
Mucolipidosis III Gamma
Mucolipidosis IV
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIC
Muscle-eye-brain Disease
MUT-related Methylmalonic Acidemia
MYO7A-related Disorders
NEB-related Nemaline Myopathy
Niemann-Pick Disease Type C
Niemann-Pick Disease Type C2
Niemann-Pick Disease, SMPD1-associated
Nijmegen Breakage Syndrome
Northern Epilepsy
Ornithine Transcarbamylase Deficiency
PCCA-related Propionic Acidemia
PCDH15-related Disorders
Pendred Syndrome
Peroxisome Biogenesis Disorder Type 3
Peroxisome Biogenesis Disorder Type 4
Peroxisome Biogenesis Disorder Type 5
Peroxisome Biogenesis Disorder Type 6
PEX1-related Zellweger Syndrome Spectrum
Phenylalanine Hydroxylase Deficiency
PKHD1-related Autosomal Recessive Polycystic Kidney Disease
Polyglandular Autoimmune Syndrome Type 1
Pompe Disease
PPT1-related Neuronal Ceroid Lipofuscinosis
Primary Carnitine Deficiency
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3
PROP1-related Combined Pituitary Hormone Deficiency
* Prothrombin Thrombophilia
* Pseudocholinesterase Deficiency
Pycnodysostosis
Pyruvate Carboxylase Deficiency
Recessive Multiple Epiphyseal Dysplasia
Rhizomelic Chondrodysplasia Punctata Type 1
RTEL1-related Disorders
Salla Disease
Sandhoff Disease
Segawa Syndrome
Short Chain Acyl-CoA Dehydrogenase Deficiency
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spastic Paraplegia Type 15
Spinal Muscular Atrophy
Spondylothoracic Dysostosis
Steroid-resistant Nephrotic Syndrome
Sulfate Transporter-related Osteochondrodysplasia
TGM1-related Autosomal Recessive Congenital Ichthyosis
TPP1-related Neuronal Ceroid Lipofuscinosis
Tyrosinemia Type I
Tyrosinemia Type II
USH1C-related Disorders
USH2A-related Disorders
Usher Syndrome Type 3
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Wilson Disease
X-linked Adrenoleukodystrophy
X-linked Alport Syndrome
X-linked Juvenile Retinoschisis
X-linked Myotubular Myopathy
X-linked Severe Combined Immunodeficiency
Xeroderma Pigmentosum Group A
Xeroderma Pigmentosum Group C
* Must be specifically requested to be included on your panel.
Synonyms
Foresight Carrier Screen
Supplemental Test Request Form Required
Yes
Collection
Sample Type
Whole blood
Collect
Lavender-top
Amount to Collect
4 mL
Preferred Volume
4 mL
Minimum Volume
4 mL
Remarks
Only use tube supplied in kit from Counsyl.
Stability (from collection to initiation)
5 days
Rejection Criteria
No Counsyl collection kit when patient presents.
Processing
Test Code
ECS
Sendout
Yes
Performing Lab
Counsyl
Specimen Preparation
Use only tube supplied in kit from Counsyl. Replace full tube back into kit with completed Counsyl TRF.
Preferred Volume
4 mL
Minimum Volume
4 mL
Rejection Criteria
No Counsyl collection kit when patient presents.
Stability (from collection to initiation)
5 days
Result Interpretation
Additional Information
The Counsyl Foresight™ Carrier Screen is a physician-prescribed DNA screen performed on a blood or saliva sample. This screen provides information about whether you are a carrier of an inherited disease, such as cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome. A carrier is typically a healthy individual with no family history of the disease he/she is carrying. If parents are carriers of the same genetic condition their baby has a one in four chance of inheriting that disease.
Disease List:
11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia
21-hydroxylase-deficient Congenital Adrenal Hyperplasia
6-pyruvoyl-tetrahydropterin Synthase Deficiency
ABCC8-related Hyperinsulinism
Achondrogenesis Type 1B
Adenosine Deaminase Deficiency
Alkaptonuria
Alpha Thalassemia
Alpha-1 Antitrypsin Deficiency
Alpha-mannosidosis
Alpha-sarcoglycanopathy
Alstrom Syndrome
AMT-related Glycine Encephalopathy
Andermann Syndrome
Argininemia
Argininosuccinic Aciduria
ARSACS
Aspartylglycosaminuria
Ataxia with Vitamin E Deficiency
Ataxia-telangiectasia
ATP7A-related Disorders
Autosomal Recessive Osteopetrosis Type 1
Bardet-Biedl Syndrome, BBS1-related
Bardet-Biedl Syndrome, BBS10-related
Bardet-Biedl Syndrome, BBS12-related
Bardet-Biedl Syndrome, BBS2-related
Beta-sarcoglycanopathy
Biotinidase Deficiency
Bloom Syndrome
Calpainopathy
Canavan Disease
Carbamoylphosphate Synthetase I Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency
Cartilage-hair Hypoplasia
Cerebrotendinous Xanthomatosis
Choroideremia
Citrullinemia Type 1
CLN3-related Neuronal Ceroid Lipofuscinosis
CLN5-related Neuronal Ceroid Lipofuscinosis
CLN6-related Neuronal Ceroid Lipofuscinosis
CNGB3-related Achromatopsia
Cohen Syndrome
COL4A3-related Alport Syndrome
COL4A4-related Alport Syndrome
Congenital Disorder of Glycosylation Type Ia
Congenital Disorder of Glycosylation Type Ib
Congenital Disorder of Glycosylation Type Ic
Congenital Finnish Nephrosis
Costeff Optic Atrophy Syndrome
Cystic Fibrosis
Cystinosis
D-bifunctional Protein Deficiency
Diastrophic Dysplasia
Dihydropyrimidine Dehydrogenase Deficiency
Dysferlinopathy
Dystrophinopathy (Including Duchenne/Becker Muscular Dystrophy)
ERCC6-related Disorders
ERCC8-related Disorders
EVC-related Ellis-van Creveld Syndrome
EVC2-related Ellis-van Creveld Syndrome
Fabry Disease
* Factor V Leiden Thrombophilia
Factor XI Deficiency
Familial Dysautonomia
Familial Mediterranean Fever
Fanconi Anemia Type C
FKRP-related Disorders
FKTN-related Disorders
Fragile X Syndrome
Galactokinase Deficiency
Galactosemia
Gamma-sarcoglycanopathy
Gaucher Disease
GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness
GLB1-related Disorders
GLDC-related Glycine Encephalopathy
* Glucose-6-phosphate Dehydrogenase Deficiency
Glutaric Acidemia Type 1
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type III
Glycogen Storage Disease Type V
GNPTAB-related Disorders
GRACILE Syndrome
HADHA-related Disorders
Hb Beta Chain-related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease)
Hereditary Fructose Intolerance
Herlitz Junctional Epidermolysis Bullosa, LAMA3-related
Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
Hexosaminidase A Deficiency (Including Tay-Sachs Disease)
* HFE-associated Hereditary Hemochromatosis
HMG-CoA Lyase Deficiency
Holocarboxylase Synthetase Deficiency
Homocystinuria Caused by Cystathionine Beta-synthase Deficiency
Hydrolethalus Syndrome
Hypophosphatasia, Autosomal Recessive
Inclusion Body Myopathy 2
Isovaleric Acidemia
Joubert Syndrome 2
KCNJ11-related Familial Hyperinsulinism
Krabbe Disease
LAMA2-related Muscular Dystrophy
Leigh Syndrome, French-Canadian Type
Lipoamide Dehydrogenase Deficiency
Lipoid Congenital Adrenal Hyperplasia
Lysosomal Acid Lipase Deficiency
Maple Syrup Urine Disease Type 1B
Maple Syrup Urine Disease Type Ia
Maple Syrup Urine Disease Type II
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Metachromatic Leukodystrophy
Methylmalonic Acidemia, cblA Type
Methylmalonic Acidemia, cblB Type
Methylmalonic Aciduria and Homocystinuria, cblC Type
* Mild Hyperhomocysteinemia Caused by MTHFR Deficiency
MKS1-related Disorders
Mucolipidosis III Gamma
Mucolipidosis IV
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIC
Muscle-eye-brain Disease
MUT-related Methylmalonic Acidemia
MYO7A-related Disorders
NEB-related Nemaline Myopathy
Niemann-Pick Disease Type C
Niemann-Pick Disease Type C2
Niemann-Pick Disease, SMPD1-associated
Nijmegen Breakage Syndrome
Northern Epilepsy
Ornithine Transcarbamylase Deficiency
PCCA-related Propionic Acidemia
PCDH15-related Disorders
Pendred Syndrome
Peroxisome Biogenesis Disorder Type 3
Peroxisome Biogenesis Disorder Type 4
Peroxisome Biogenesis Disorder Type 5
Peroxisome Biogenesis Disorder Type 6
PEX1-related Zellweger Syndrome Spectrum
Phenylalanine Hydroxylase Deficiency
PKHD1-related Autosomal Recessive Polycystic Kidney Disease
Polyglandular Autoimmune Syndrome Type 1
Pompe Disease
PPT1-related Neuronal Ceroid Lipofuscinosis
Primary Carnitine Deficiency
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3
PROP1-related Combined Pituitary Hormone Deficiency
* Prothrombin Thrombophilia
* Pseudocholinesterase Deficiency
Pycnodysostosis
Pyruvate Carboxylase Deficiency
Recessive Multiple Epiphyseal Dysplasia
Rhizomelic Chondrodysplasia Punctata Type 1
RTEL1-related Disorders
Salla Disease
Sandhoff Disease
Segawa Syndrome
Short Chain Acyl-CoA Dehydrogenase Deficiency
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spastic Paraplegia Type 15
Spinal Muscular Atrophy
Spondylothoracic Dysostosis
Steroid-resistant Nephrotic Syndrome
Sulfate Transporter-related Osteochondrodysplasia
TGM1-related Autosomal Recessive Congenital Ichthyosis
TPP1-related Neuronal Ceroid Lipofuscinosis
Tyrosinemia Type I
Tyrosinemia Type II
USH1C-related Disorders
USH2A-related Disorders
Usher Syndrome Type 3
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Wilson Disease
X-linked Adrenoleukodystrophy
X-linked Alport Syndrome
X-linked Juvenile Retinoschisis
X-linked Myotubular Myopathy
X-linked Severe Combined Immunodeficiency
Xeroderma Pigmentosum Group A
Xeroderma Pigmentosum Group C
* Must be specifically requested to be included on your panel.
Administrative
CPT Codes
81479
Complete View
Available Stat
No
Test Code
ECS
Performing Lab
Counsyl
Sendout
Yes
Methodology
Full Exon Sequencing
Remarks
Only use tube supplied in kit from Counsyl.
Collect
Lavender-top
Amount to Collect
4 mL
Sample Type
Whole blood
Preferred Volume
4 mL
Minimum Volume
4 mL
Rejection Criteria
No Counsyl collection kit when patient presents.
Specimen Preparation
Use only tube supplied in kit from Counsyl. Replace full tube back into kit with completed Counsyl TRF.
Synonyms
Foresight Carrier Screen
Stability (from collection to initiation)
5 days
Reported
2 weeks
Additional Information
The Counsyl Foresight™ Carrier Screen is a physician-prescribed DNA screen performed on a blood or saliva sample. This screen provides information about whether you are a carrier of an inherited disease, such as cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome. A carrier is typically a healthy individual with no family history of the disease he/she is carrying. If parents are carriers of the same genetic condition their baby has a one in four chance of inheriting that disease.
Disease List:
11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia
21-hydroxylase-deficient Congenital Adrenal Hyperplasia
6-pyruvoyl-tetrahydropterin Synthase Deficiency
ABCC8-related Hyperinsulinism
Achondrogenesis Type 1B
Adenosine Deaminase Deficiency
Alkaptonuria
Alpha Thalassemia
Alpha-1 Antitrypsin Deficiency
Alpha-mannosidosis
Alpha-sarcoglycanopathy
Alstrom Syndrome
AMT-related Glycine Encephalopathy
Andermann Syndrome
Argininemia
Argininosuccinic Aciduria
ARSACS
Aspartylglycosaminuria
Ataxia with Vitamin E Deficiency
Ataxia-telangiectasia
ATP7A-related Disorders
Autosomal Recessive Osteopetrosis Type 1
Bardet-Biedl Syndrome, BBS1-related
Bardet-Biedl Syndrome, BBS10-related
Bardet-Biedl Syndrome, BBS12-related
Bardet-Biedl Syndrome, BBS2-related
Beta-sarcoglycanopathy
Biotinidase Deficiency
Bloom Syndrome
Calpainopathy
Canavan Disease
Carbamoylphosphate Synthetase I Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency
Cartilage-hair Hypoplasia
Cerebrotendinous Xanthomatosis
Choroideremia
Citrullinemia Type 1
CLN3-related Neuronal Ceroid Lipofuscinosis
CLN5-related Neuronal Ceroid Lipofuscinosis
CLN6-related Neuronal Ceroid Lipofuscinosis
CNGB3-related Achromatopsia
Cohen Syndrome
COL4A3-related Alport Syndrome
COL4A4-related Alport Syndrome
Congenital Disorder of Glycosylation Type Ia
Congenital Disorder of Glycosylation Type Ib
Congenital Disorder of Glycosylation Type Ic
Congenital Finnish Nephrosis
Costeff Optic Atrophy Syndrome
Cystic Fibrosis
Cystinosis
D-bifunctional Protein Deficiency
Diastrophic Dysplasia
Dihydropyrimidine Dehydrogenase Deficiency
Dysferlinopathy
Dystrophinopathy (Including Duchenne/Becker Muscular Dystrophy)
ERCC6-related Disorders
ERCC8-related Disorders
EVC-related Ellis-van Creveld Syndrome
EVC2-related Ellis-van Creveld Syndrome
Fabry Disease
* Factor V Leiden Thrombophilia
Factor XI Deficiency
Familial Dysautonomia
Familial Mediterranean Fever
Fanconi Anemia Type C
FKRP-related Disorders
FKTN-related Disorders
Fragile X Syndrome
Galactokinase Deficiency
Galactosemia
Gamma-sarcoglycanopathy
Gaucher Disease
GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness
GLB1-related Disorders
GLDC-related Glycine Encephalopathy
* Glucose-6-phosphate Dehydrogenase Deficiency
Glutaric Acidemia Type 1
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type III
Glycogen Storage Disease Type V
GNPTAB-related Disorders
GRACILE Syndrome
HADHA-related Disorders
Hb Beta Chain-related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease)
Hereditary Fructose Intolerance
Herlitz Junctional Epidermolysis Bullosa, LAMA3-related
Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
Hexosaminidase A Deficiency (Including Tay-Sachs Disease)
* HFE-associated Hereditary Hemochromatosis
HMG-CoA Lyase Deficiency
Holocarboxylase Synthetase Deficiency
Homocystinuria Caused by Cystathionine Beta-synthase Deficiency
Hydrolethalus Syndrome
Hypophosphatasia, Autosomal Recessive
Inclusion Body Myopathy 2
Isovaleric Acidemia
Joubert Syndrome 2
KCNJ11-related Familial Hyperinsulinism
Krabbe Disease
LAMA2-related Muscular Dystrophy
Leigh Syndrome, French-Canadian Type
Lipoamide Dehydrogenase Deficiency
Lipoid Congenital Adrenal Hyperplasia
Lysosomal Acid Lipase Deficiency
Maple Syrup Urine Disease Type 1B
Maple Syrup Urine Disease Type Ia
Maple Syrup Urine Disease Type II
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Metachromatic Leukodystrophy
Methylmalonic Acidemia, cblA Type
Methylmalonic Acidemia, cblB Type
Methylmalonic Aciduria and Homocystinuria, cblC Type
* Mild Hyperhomocysteinemia Caused by MTHFR Deficiency
MKS1-related Disorders
Mucolipidosis III Gamma
Mucolipidosis IV
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIC
Muscle-eye-brain Disease
MUT-related Methylmalonic Acidemia
MYO7A-related Disorders
NEB-related Nemaline Myopathy
Niemann-Pick Disease Type C
Niemann-Pick Disease Type C2
Niemann-Pick Disease, SMPD1-associated
Nijmegen Breakage Syndrome
Northern Epilepsy
Ornithine Transcarbamylase Deficiency
PCCA-related Propionic Acidemia
PCDH15-related Disorders
Pendred Syndrome
Peroxisome Biogenesis Disorder Type 3
Peroxisome Biogenesis Disorder Type 4
Peroxisome Biogenesis Disorder Type 5
Peroxisome Biogenesis Disorder Type 6
PEX1-related Zellweger Syndrome Spectrum
Phenylalanine Hydroxylase Deficiency
PKHD1-related Autosomal Recessive Polycystic Kidney Disease
Polyglandular Autoimmune Syndrome Type 1
Pompe Disease
PPT1-related Neuronal Ceroid Lipofuscinosis
Primary Carnitine Deficiency
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3
PROP1-related Combined Pituitary Hormone Deficiency
* Prothrombin Thrombophilia
* Pseudocholinesterase Deficiency
Pycnodysostosis
Pyruvate Carboxylase Deficiency
Recessive Multiple Epiphyseal Dysplasia
Rhizomelic Chondrodysplasia Punctata Type 1
RTEL1-related Disorders
Salla Disease
Sandhoff Disease
Segawa Syndrome
Short Chain Acyl-CoA Dehydrogenase Deficiency
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spastic Paraplegia Type 15
Spinal Muscular Atrophy
Spondylothoracic Dysostosis
Steroid-resistant Nephrotic Syndrome
Sulfate Transporter-related Osteochondrodysplasia
TGM1-related Autosomal Recessive Congenital Ichthyosis
TPP1-related Neuronal Ceroid Lipofuscinosis
Tyrosinemia Type I
Tyrosinemia Type II
USH1C-related Disorders
USH2A-related Disorders
Usher Syndrome Type 3
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Wilson Disease
X-linked Adrenoleukodystrophy
X-linked Alport Syndrome
X-linked Juvenile Retinoschisis
X-linked Myotubular Myopathy
X-linked Severe Combined Immunodeficiency
Xeroderma Pigmentosum Group A
Xeroderma Pigmentosum Group C
* Must be specifically requested to be included on your panel.
