Special Collection

 Both amniotic fluid and maternal blood are required for this test.

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Amniotic fluid Sterile container 30 mL Required
Whole blood-Whole blood-MCC studies 6 mL Purple tube (EDTA) 3 mL-6 mL Required
Buccal swab-Whole blood-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-Whole blood-MCC studies Oragene saliva collection kit 2 tubes Alternate

Amniotic Fluid Volume Requirements for Prenatal Microarray Analysis

Outpatient Specimen Preparation

Amniotic fluid: Keep at room temperature
                        Do not add fixative
                        Do not freeze
                        Protect from heat
                        Protect from cold.

Whole blood: Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling

Stability

Amniotic fluid: Room temperature 24 hours

Whole blood: Room temperature 24 hours
Whole blood: Refrigerated 72 hours

Buccal swab: Room temperature: 7 days

Saliva: Room temperature 6 months

Remarks

Submission of the following items is REQUIRED for this test: 

  1. Amniotic fluid sample (>=30 mL preferred)
  2. Prenatal Genetic Test Requisition Form. Please click on the Lab Form link at the bottom of this page to access the form. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
  3. Maternal specimen (4mL EDTA blood, saliva, or buccal swabs) is required to be used for maternal cell contamination study.

 


PLEASE NOTE: Maternal and paternal microarray or FISH analyses are NOT included in this test. If prenatal microarray that includes parental tesitng is desired, please order "Prenatal Microarray with Parental Testing (test code: PMAPAR).


The prenatal microarray will be performed on direct amniotic fluid if there is sufficient volume. See the Amniotic Fluid Volume Requirements guide for how much amniotic fluid is required depending on what testing is desired.  If insufficient fluid is received, or if sample is bloody, testing will be performed on DNA extracted from cultured amniocytes (cells grown from amniotic fluid), which will increase turn-around-time.

Clinical Information

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes. This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis also cannot detect balanced chromosomal rearrangements such as a balanced translocation or inversion.

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

2 weeks direct amniotic fluid [additional time if performed on cultured cells]

Lab Area

Institute for Genomic Medicine

Methodology

DNA extraction, Microarray analysis

CPT Codes

81229, 81265

Synonyms

  • Prenatal array, Prenatal chromosomal microarray (CMA), Prenatal array CGH, Prenatal array comparative hybridization (CGH), Prenatal whole genome microarray, Amniotic fluid microarray, Prenatal oligonucleotide microarray, Prenatal SNP microarray, Prenatal oligo array, Amniocyte microarray, Fetal microarray , IGM Test

Special Collection

 Both amniotic fluid and maternal blood are required for this test.

Inpatient Submit with Specimen

Genetics Prenatal (MFM) Test Requisition Internal

NCH internal providers, for prenatal samples use the NCH Internal Genetics Prenatal (MFM) Test Requisition (do NOT place Epic orders).

Collect

Specimen Type Type of Container Volume of Specimen Status
Amniotic fluid Sterile container 30 mL Required
Whole blood-Whole blood-MCC studies 6 mL Purple tube (EDTA) 3 mL-6 mL Required
Buccal swab-Whole blood-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-Whole blood-MCC studies Oragene saliva collection kit 2 tubes Alternate

Amniotic Fluid Volume Requirements for Prenatal Microarray Analysis

Minimum Volume

Specimen Type Type of Container Minimum Volume
Amniotic fluid Sterile container  
Whole blood-MCC studies 6 mL Purple tube (EDTA) 1 mL
Buccal swab-MCC studies Buccal swab kit 2 swabs
Saliva-MCC studies Oragene saliva collection kit 1 tube

Inpatient Specimen Preparation

Amniotic fluid: Keep at room temperature
                        Do not add fixative
                        Do not freeze
                        Protect from heat
                        Protect from cold.

Whole blood: Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling

Stability

Amniotic fluid: Room temperature 24 hours

Whole blood: Room temperature 24 hours
Whole blood: Refrigerated 72 hours

Buccal swab: Room temperature: 7 days

Saliva: Room temperature 6 months

Remarks

Submission of the following items is REQUIRED for this test: 

  1. Amniotic fluid sample (>=30 mL preferred)
  2. Prenatal Genetic Test Requisition Form. Please click on the Lab Form link at the bottom of this page to access the form. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
  3. Maternal specimen (4mL EDTA blood, saliva, or buccal swabs) is required to be used for maternal cell contamination study.

 


PLEASE NOTE: Maternal and paternal microarray or FISH analyses are NOT included in this test. If prenatal microarray that includes parental tesitng is desired, please order "Prenatal Microarray with Parental Testing (test code: PMAPAR).


The prenatal microarray will be performed on direct amniotic fluid if there is sufficient volume. See the Amniotic Fluid Volume Requirements guide for how much amniotic fluid is required depending on what testing is desired.  If insufficient fluid is received, or if sample is bloody, testing will be performed on DNA extracted from cultured amniocytes (cells grown from amniotic fluid), which will increase turn-around-time.

Clinical Information

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes. This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis also cannot detect balanced chromosomal rearrangements such as a balanced translocation or inversion.

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

2 weeks direct amniotic fluid [additional time if performed on cultured cells]

CPT Codes

81229, 81265

Lab Area

Institute for Genomic Medicine

Synonyms

  • Prenatal array, Prenatal chromosomal microarray (CMA), Prenatal array CGH, Prenatal array comparative hybridization (CGH), Prenatal whole genome microarray, Amniotic fluid microarray, Prenatal oligonucleotide microarray, Prenatal SNP microarray, Prenatal oligo array, Amniocyte microarray, Fetal microarray , IGM Test

Estimated Patient Price

$2,500 - $5,000

Synonyms

  • Prenatal array, Prenatal chromosomal microarray (CMA), Prenatal array CGH, Prenatal array comparative hybridization (CGH), Prenatal whole genome microarray, Amniotic fluid microarray, Prenatal oligonucleotide microarray, Prenatal SNP microarray, Prenatal oligo array, Amniocyte microarray, Fetal microarray , IGM Test

CPT Codes

81229, 81265

Clinical Information

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes. This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis also cannot detect balanced chromosomal rearrangements such as a balanced translocation or inversion.

Methodology

DNA extraction, Microarray analysis

Special Collection

 Both amniotic fluid and maternal blood are required for this test.

Inpatient Submit with Specimen

Genetics Prenatal (MFM) Test Requisition Internal

NCH internal providers, for prenatal samples use the NCH Internal Genetics Prenatal (MFM) Test Requisition (do NOT place Epic orders).

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Amniotic fluid Sterile container 30 mL Required
Whole blood-Whole blood-MCC studies 6 mL Purple tube (EDTA) 3 mL-6 mL Required
Buccal swab-Whole blood-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-Whole blood-MCC studies Oragene saliva collection kit 2 tubes Alternate

Amniotic Fluid Volume Requirements for Prenatal Microarray Analysis

Minimum Volume

Specimen Type Type of Container Minimum Volume
Amniotic fluid Sterile container  
Whole blood-MCC studies 6 mL Purple tube (EDTA) 1 mL
Buccal swab-MCC studies Buccal swab kit 2 swabs
Saliva-MCC studies Oragene saliva collection kit 1 tube

Inpatient Specimen Preparation

Amniotic fluid: Keep at room temperature
                        Do not add fixative
                        Do not freeze
                        Protect from heat
                        Protect from cold.

Whole blood: Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Outpatient Specimen Preparation

Amniotic fluid: Keep at room temperature
                        Do not add fixative
                        Do not freeze
                        Protect from heat
                        Protect from cold.

Whole blood: Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

InLab Processing

STAT Specimen. CPA needs to order SGENSP in Sunquest for Non-EPIC lab order. Send to Cytogenetics Lab ASAP with all submitted paperwork.

Stability

Amniotic fluid: Room temperature 24 hours

Whole blood: Room temperature 24 hours
Whole blood: Refrigerated 72 hours

Buccal swab: Room temperature: 7 days

Saliva: Room temperature 6 months

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

2 weeks direct amniotic fluid [additional time if performed on cultured cells]

Remarks

Submission of the following items is REQUIRED for this test: 

  1. Amniotic fluid sample (>=30 mL preferred)
  2. Prenatal Genetic Test Requisition Form. Please click on the Lab Form link at the bottom of this page to access the form. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
  3. Maternal specimen (4mL EDTA blood, saliva, or buccal swabs) is required to be used for maternal cell contamination study.

 


PLEASE NOTE: Maternal and paternal microarray or FISH analyses are NOT included in this test. If prenatal microarray that includes parental tesitng is desired, please order "Prenatal Microarray with Parental Testing (test code: PMAPAR).


The prenatal microarray will be performed on direct amniotic fluid if there is sufficient volume. See the Amniotic Fluid Volume Requirements guide for how much amniotic fluid is required depending on what testing is desired.  If insufficient fluid is received, or if sample is bloody, testing will be performed on DNA extracted from cultured amniocytes (cells grown from amniotic fluid), which will increase turn-around-time.

Clinical Information

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes. This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis also cannot detect balanced chromosomal rearrangements such as a balanced translocation or inversion.

Synonyms

  • Prenatal array, Prenatal chromosomal microarray (CMA), Prenatal array CGH, Prenatal array comparative hybridization (CGH), Prenatal whole genome microarray, Amniotic fluid microarray, Prenatal oligonucleotide microarray, Prenatal SNP microarray, Prenatal oligo array, Amniocyte microarray, Fetal microarray , IGM Test

Methodology

DNA extraction, Microarray analysis

CPT Codes

81229, 81265

Estimated Patient Price

$2,500 - $5,000

DC Code

5321

Downtime Availability

4-Not available
Outpatient Requirements

Special Collection

 Both amniotic fluid and maternal blood are required for this test.

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Amniotic fluid Sterile container 30 mL Required
Whole blood-Whole blood-MCC studies 6 mL Purple tube (EDTA) 3 mL-6 mL Required
Buccal swab-Whole blood-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-Whole blood-MCC studies Oragene saliva collection kit 2 tubes Alternate

Amniotic Fluid Volume Requirements for Prenatal Microarray Analysis

Outpatient Specimen Preparation

Amniotic fluid: Keep at room temperature
                        Do not add fixative
                        Do not freeze
                        Protect from heat
                        Protect from cold.

Whole blood: Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling

Stability

Amniotic fluid: Room temperature 24 hours

Whole blood: Room temperature 24 hours
Whole blood: Refrigerated 72 hours

Buccal swab: Room temperature: 7 days

Saliva: Room temperature 6 months

Remarks

Submission of the following items is REQUIRED for this test: 

  1. Amniotic fluid sample (>=30 mL preferred)
  2. Prenatal Genetic Test Requisition Form. Please click on the Lab Form link at the bottom of this page to access the form. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
  3. Maternal specimen (4mL EDTA blood, saliva, or buccal swabs) is required to be used for maternal cell contamination study.

 


PLEASE NOTE: Maternal and paternal microarray or FISH analyses are NOT included in this test. If prenatal microarray that includes parental tesitng is desired, please order "Prenatal Microarray with Parental Testing (test code: PMAPAR).


The prenatal microarray will be performed on direct amniotic fluid if there is sufficient volume. See the Amniotic Fluid Volume Requirements guide for how much amniotic fluid is required depending on what testing is desired.  If insufficient fluid is received, or if sample is bloody, testing will be performed on DNA extracted from cultured amniocytes (cells grown from amniotic fluid), which will increase turn-around-time.

Clinical Information

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes. This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis also cannot detect balanced chromosomal rearrangements such as a balanced translocation or inversion.

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

2 weeks direct amniotic fluid [additional time if performed on cultured cells]

Lab Area

Institute for Genomic Medicine

Methodology

DNA extraction, Microarray analysis

CPT Codes

81229, 81265

Synonyms

  • Prenatal array, Prenatal chromosomal microarray (CMA), Prenatal array CGH, Prenatal array comparative hybridization (CGH), Prenatal whole genome microarray, Amniotic fluid microarray, Prenatal oligonucleotide microarray, Prenatal SNP microarray, Prenatal oligo array, Amniocyte microarray, Fetal microarray , IGM Test
Inpatient Requirements

Special Collection

 Both amniotic fluid and maternal blood are required for this test.

Inpatient Submit with Specimen

Genetics Prenatal (MFM) Test Requisition Internal

NCH internal providers, for prenatal samples use the NCH Internal Genetics Prenatal (MFM) Test Requisition (do NOT place Epic orders).

Collect

Specimen Type Type of Container Volume of Specimen Status
Amniotic fluid Sterile container 30 mL Required
Whole blood-Whole blood-MCC studies 6 mL Purple tube (EDTA) 3 mL-6 mL Required
Buccal swab-Whole blood-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-Whole blood-MCC studies Oragene saliva collection kit 2 tubes Alternate

Amniotic Fluid Volume Requirements for Prenatal Microarray Analysis

Minimum Volume

Specimen Type Type of Container Minimum Volume
Amniotic fluid Sterile container  
Whole blood-MCC studies 6 mL Purple tube (EDTA) 1 mL
Buccal swab-MCC studies Buccal swab kit 2 swabs
Saliva-MCC studies Oragene saliva collection kit 1 tube

Inpatient Specimen Preparation

Amniotic fluid: Keep at room temperature
                        Do not add fixative
                        Do not freeze
                        Protect from heat
                        Protect from cold.

Whole blood: Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling

Stability

Amniotic fluid: Room temperature 24 hours

Whole blood: Room temperature 24 hours
Whole blood: Refrigerated 72 hours

Buccal swab: Room temperature: 7 days

Saliva: Room temperature 6 months

Remarks

Submission of the following items is REQUIRED for this test: 

  1. Amniotic fluid sample (>=30 mL preferred)
  2. Prenatal Genetic Test Requisition Form. Please click on the Lab Form link at the bottom of this page to access the form. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
  3. Maternal specimen (4mL EDTA blood, saliva, or buccal swabs) is required to be used for maternal cell contamination study.

 


PLEASE NOTE: Maternal and paternal microarray or FISH analyses are NOT included in this test. If prenatal microarray that includes parental tesitng is desired, please order "Prenatal Microarray with Parental Testing (test code: PMAPAR).


The prenatal microarray will be performed on direct amniotic fluid if there is sufficient volume. See the Amniotic Fluid Volume Requirements guide for how much amniotic fluid is required depending on what testing is desired.  If insufficient fluid is received, or if sample is bloody, testing will be performed on DNA extracted from cultured amniocytes (cells grown from amniotic fluid), which will increase turn-around-time.

Clinical Information

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes. This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis also cannot detect balanced chromosomal rearrangements such as a balanced translocation or inversion.

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

2 weeks direct amniotic fluid [additional time if performed on cultured cells]

CPT Codes

81229, 81265

Lab Area

Institute for Genomic Medicine

Synonyms

  • Prenatal array, Prenatal chromosomal microarray (CMA), Prenatal array CGH, Prenatal array comparative hybridization (CGH), Prenatal whole genome microarray, Amniotic fluid microarray, Prenatal oligonucleotide microarray, Prenatal SNP microarray, Prenatal oligo array, Amniocyte microarray, Fetal microarray , IGM Test

Estimated Patient Price

$2,500 - $5,000
Overview/Billing

Synonyms

  • Prenatal array, Prenatal chromosomal microarray (CMA), Prenatal array CGH, Prenatal array comparative hybridization (CGH), Prenatal whole genome microarray, Amniotic fluid microarray, Prenatal oligonucleotide microarray, Prenatal SNP microarray, Prenatal oligo array, Amniocyte microarray, Fetal microarray , IGM Test

CPT Codes

81229, 81265
Interpretation

Clinical Information

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes. This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis also cannot detect balanced chromosomal rearrangements such as a balanced translocation or inversion.

Methodology

DNA extraction, Microarray analysis
NCH Lab Only

Special Collection

 Both amniotic fluid and maternal blood are required for this test.

Inpatient Submit with Specimen

Genetics Prenatal (MFM) Test Requisition Internal

NCH internal providers, for prenatal samples use the NCH Internal Genetics Prenatal (MFM) Test Requisition (do NOT place Epic orders).

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Amniotic fluid Sterile container 30 mL Required
Whole blood-Whole blood-MCC studies 6 mL Purple tube (EDTA) 3 mL-6 mL Required
Buccal swab-Whole blood-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-Whole blood-MCC studies Oragene saliva collection kit 2 tubes Alternate

Amniotic Fluid Volume Requirements for Prenatal Microarray Analysis

Minimum Volume

Specimen Type Type of Container Minimum Volume
Amniotic fluid Sterile container  
Whole blood-MCC studies 6 mL Purple tube (EDTA) 1 mL
Buccal swab-MCC studies Buccal swab kit 2 swabs
Saliva-MCC studies Oragene saliva collection kit 1 tube

Inpatient Specimen Preparation

Amniotic fluid: Keep at room temperature
                        Do not add fixative
                        Do not freeze
                        Protect from heat
                        Protect from cold.

Whole blood: Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Outpatient Specimen Preparation

Amniotic fluid: Keep at room temperature
                        Do not add fixative
                        Do not freeze
                        Protect from heat
                        Protect from cold.

Whole blood: Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

InLab Processing

STAT Specimen. CPA needs to order SGENSP in Sunquest for Non-EPIC lab order. Send to Cytogenetics Lab ASAP with all submitted paperwork.

Stability

Amniotic fluid: Room temperature 24 hours

Whole blood: Room temperature 24 hours
Whole blood: Refrigerated 72 hours

Buccal swab: Room temperature: 7 days

Saliva: Room temperature 6 months

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

2 weeks direct amniotic fluid [additional time if performed on cultured cells]

Remarks

Submission of the following items is REQUIRED for this test: 

  1. Amniotic fluid sample (>=30 mL preferred)
  2. Prenatal Genetic Test Requisition Form. Please click on the Lab Form link at the bottom of this page to access the form. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.
  3. Maternal specimen (4mL EDTA blood, saliva, or buccal swabs) is required to be used for maternal cell contamination study.

 


PLEASE NOTE: Maternal and paternal microarray or FISH analyses are NOT included in this test. If prenatal microarray that includes parental tesitng is desired, please order "Prenatal Microarray with Parental Testing (test code: PMAPAR).


The prenatal microarray will be performed on direct amniotic fluid if there is sufficient volume. See the Amniotic Fluid Volume Requirements guide for how much amniotic fluid is required depending on what testing is desired.  If insufficient fluid is received, or if sample is bloody, testing will be performed on DNA extracted from cultured amniocytes (cells grown from amniotic fluid), which will increase turn-around-time.

Clinical Information

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes. This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 100 kb for deletions and less than 200 kb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis also cannot detect balanced chromosomal rearrangements such as a balanced translocation or inversion.

Synonyms

  • Prenatal array, Prenatal chromosomal microarray (CMA), Prenatal array CGH, Prenatal array comparative hybridization (CGH), Prenatal whole genome microarray, Amniotic fluid microarray, Prenatal oligonucleotide microarray, Prenatal SNP microarray, Prenatal oligo array, Amniocyte microarray, Fetal microarray , IGM Test

Methodology

DNA extraction, Microarray analysis

CPT Codes

81229, 81265

Estimated Patient Price

$2,500 - $5,000

DC Code

5321

Downtime Availability

4-Not available

Lab Area

Lab Area
Institute for Genomic Medicine