Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 3-4 mL Preferred
Buccal swab  Buccal swab kit 4 swabs Alternate
Saliva Oragene saliva collection tube 2 tubes Preferred

Container Image

Outpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Unacceptable Conditions

Frozen specimen, Clotted specimen, Wrong collection tube, Centrifuged specimen, Serum sample

Stability

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature 7 days

Saliva: Room temperature 6 month(s)

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required;. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. When ordering this test, please provide the following information on the test requisition form: 1) previously tested Proband's Name, 2) Proband's Date of Birth and/or Proband's Test Accession Number.

Although a blood sample is the preferred sample type, saliva and buccal samples are also accepted for this test.

This test is available for biological parents (mother and father) of a proband who previously had cytogenetic abnormality detected by Nationwide Children's laboratory, such as parents of a proband who had a genomic loss and/or gain detected by chromosomal microarray analysis. If the proband's cytogenetic abnormality was detected by an outside laboratory or if the patient to be tested is a family member of, but not biological parents of, the proband (e.g. grandparent, sibling, aunt/uncle, cousin, etc), then please order a test called "SNP Microarray Analysis (test code: SNPMA)" in place of this test.

PLEASE NOTE: Depending on the type and size of cytogenetic abnormality detected in the proband, parental FISH analyses may be recommended over parental microarray analyses. If uncertain which parental testing should be ordered, please call the Cytogenetic Laboratory (614) 722-5321 and ask to speak with a laboratory genetic counselor.

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 cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Lab Area

Institute for Genomic Medicine

Methodology

DNA extraction, Microarray analysis

CPT Codes

81229

Synonyms

  • Parental follow-up microarray, Microarray analysis on parental sample, Parental microarray for known genomic loss/gain, Parental aCGH, Parental array, Parental CGH, Parental chromosomal microarray (CMA), Parental whole genome microarray, Parental CGH+SNP, Parental SNP array, Parental SNP chip, IGM Test

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 3-4 mL Preferred
Buccal swab  Buccal swab kit 4 swabs Alternate
Saliva Oragene saliva collection tube 2 tubes Preferred

Minimum Volume

Specimen Type Type of Container Minimum Volume
Whole blood 4 mL Purple tube (EDTA) 1 mL
Buccal swab  Buccal swab kit 2 swabs
Saliva Oragene saliva collection tube 1 tube

Container Image

Inpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Unacceptable Conditions

Frozen specimen, Clotted specimen, Wrong collection tube, Centrifuged specimen, Serum sample

Stability

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature 7 days

Saliva: Room temperature 6 month(s)

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required;. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. When ordering this test, please provide the following information on the test requisition form: 1) previously tested Proband's Name, 2) Proband's Date of Birth and/or Proband's Test Accession Number.

Although a blood sample is the preferred sample type, saliva and buccal samples are also accepted for this test.

This test is available for biological parents (mother and father) of a proband who previously had cytogenetic abnormality detected by Nationwide Children's laboratory, such as parents of a proband who had a genomic loss and/or gain detected by chromosomal microarray analysis. If the proband's cytogenetic abnormality was detected by an outside laboratory or if the patient to be tested is a family member of, but not biological parents of, the proband (e.g. grandparent, sibling, aunt/uncle, cousin, etc), then please order a test called "SNP Microarray Analysis (test code: SNPMA)" in place of this test.

PLEASE NOTE: Depending on the type and size of cytogenetic abnormality detected in the proband, parental FISH analyses may be recommended over parental microarray analyses. If uncertain which parental testing should be ordered, please call the Cytogenetic Laboratory (614) 722-5321 and ask to speak with a laboratory genetic counselor.

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 cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

CPT Codes

81229

Lab Area

Institute for Genomic Medicine

Synonyms

  • Parental follow-up microarray, Microarray analysis on parental sample, Parental microarray for known genomic loss/gain, Parental aCGH, Parental array, Parental CGH, Parental chromosomal microarray (CMA), Parental whole genome microarray, Parental CGH+SNP, Parental SNP array, Parental SNP chip, IGM Test

Estimated Patient Price

$1,000 - $2,500

Synonyms

  • Parental follow-up microarray, Microarray analysis on parental sample, Parental microarray for known genomic loss/gain, Parental aCGH, Parental array, Parental CGH, Parental chromosomal microarray (CMA), Parental whole genome microarray, Parental CGH+SNP, Parental SNP array, Parental SNP chip, IGM Test

CPT Codes

81229

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 cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Methodology

DNA extraction, Microarray analysis

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 3-4 mL Preferred
Buccal swab  Buccal swab kit 4 swabs Alternate
Saliva Oragene saliva collection tube 2 tubes Preferred

Minimum Volume

Specimen Type Type of Container Minimum Volume
Whole blood 4 mL Purple tube (EDTA) 1 mL
Buccal swab  Buccal swab kit 2 swabs
Saliva Oragene saliva collection tube 1 tube

Container Image

Inpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Outpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

InLab Processing

Send to Cytogenetics Lab with all submitted paperwork. CPA needs to order GENSP in Sunquest for Non-EPIC lab order. For saliva sample, families can collect sample at home and can mail in the sample and lab order to CPA or drop off the sample with a copy of lab order at a NCH lab location to be forwarded to CPA.

Stability

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature 7 days

Saliva: Room temperature 6 month(s)

Unacceptable Conditions

Frozen specimen, Clotted specimen, Wrong collection tube, Centrifuged specimen, Serum sample

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required;. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. When ordering this test, please provide the following information on the test requisition form: 1) previously tested Proband's Name, 2) Proband's Date of Birth and/or Proband's Test Accession Number.

Although a blood sample is the preferred sample type, saliva and buccal samples are also accepted for this test.

This test is available for biological parents (mother and father) of a proband who previously had cytogenetic abnormality detected by Nationwide Children's laboratory, such as parents of a proband who had a genomic loss and/or gain detected by chromosomal microarray analysis. If the proband's cytogenetic abnormality was detected by an outside laboratory or if the patient to be tested is a family member of, but not biological parents of, the proband (e.g. grandparent, sibling, aunt/uncle, cousin, etc), then please order a test called "SNP Microarray Analysis (test code: SNPMA)" in place of this test.

PLEASE NOTE: Depending on the type and size of cytogenetic abnormality detected in the proband, parental FISH analyses may be recommended over parental microarray analyses. If uncertain which parental testing should be ordered, please call the Cytogenetic Laboratory (614) 722-5321 and ask to speak with a laboratory genetic counselor.

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 cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Synonyms

  • Parental follow-up microarray, Microarray analysis on parental sample, Parental microarray for known genomic loss/gain, Parental aCGH, Parental array, Parental CGH, Parental chromosomal microarray (CMA), Parental whole genome microarray, Parental CGH+SNP, Parental SNP array, Parental SNP chip, IGM Test

Methodology

DNA extraction, Microarray analysis

CPT Codes

81229

Estimated Patient Price

$1,000 - $2,500

DC Code

5321

Downtime Availability

4-Not available
Outpatient Requirements

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 3-4 mL Preferred
Buccal swab  Buccal swab kit 4 swabs Alternate
Saliva Oragene saliva collection tube 2 tubes Preferred

Container Image

Outpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Unacceptable Conditions

Frozen specimen, Clotted specimen, Wrong collection tube, Centrifuged specimen, Serum sample

Stability

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature 7 days

Saliva: Room temperature 6 month(s)

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required;. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. When ordering this test, please provide the following information on the test requisition form: 1) previously tested Proband's Name, 2) Proband's Date of Birth and/or Proband's Test Accession Number.

Although a blood sample is the preferred sample type, saliva and buccal samples are also accepted for this test.

This test is available for biological parents (mother and father) of a proband who previously had cytogenetic abnormality detected by Nationwide Children's laboratory, such as parents of a proband who had a genomic loss and/or gain detected by chromosomal microarray analysis. If the proband's cytogenetic abnormality was detected by an outside laboratory or if the patient to be tested is a family member of, but not biological parents of, the proband (e.g. grandparent, sibling, aunt/uncle, cousin, etc), then please order a test called "SNP Microarray Analysis (test code: SNPMA)" in place of this test.

PLEASE NOTE: Depending on the type and size of cytogenetic abnormality detected in the proband, parental FISH analyses may be recommended over parental microarray analyses. If uncertain which parental testing should be ordered, please call the Cytogenetic Laboratory (614) 722-5321 and ask to speak with a laboratory genetic counselor.

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 cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Lab Area

Institute for Genomic Medicine

Methodology

DNA extraction, Microarray analysis

CPT Codes

81229

Synonyms

  • Parental follow-up microarray, Microarray analysis on parental sample, Parental microarray for known genomic loss/gain, Parental aCGH, Parental array, Parental CGH, Parental chromosomal microarray (CMA), Parental whole genome microarray, Parental CGH+SNP, Parental SNP array, Parental SNP chip, IGM Test
Inpatient Requirements

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 3-4 mL Preferred
Buccal swab  Buccal swab kit 4 swabs Alternate
Saliva Oragene saliva collection tube 2 tubes Preferred

Minimum Volume

Specimen Type Type of Container Minimum Volume
Whole blood 4 mL Purple tube (EDTA) 1 mL
Buccal swab  Buccal swab kit 2 swabs
Saliva Oragene saliva collection tube 1 tube

Container Image

Inpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Unacceptable Conditions

Frozen specimen, Clotted specimen, Wrong collection tube, Centrifuged specimen, Serum sample

Stability

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature 7 days

Saliva: Room temperature 6 month(s)

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required;. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. When ordering this test, please provide the following information on the test requisition form: 1) previously tested Proband's Name, 2) Proband's Date of Birth and/or Proband's Test Accession Number.

Although a blood sample is the preferred sample type, saliva and buccal samples are also accepted for this test.

This test is available for biological parents (mother and father) of a proband who previously had cytogenetic abnormality detected by Nationwide Children's laboratory, such as parents of a proband who had a genomic loss and/or gain detected by chromosomal microarray analysis. If the proband's cytogenetic abnormality was detected by an outside laboratory or if the patient to be tested is a family member of, but not biological parents of, the proband (e.g. grandparent, sibling, aunt/uncle, cousin, etc), then please order a test called "SNP Microarray Analysis (test code: SNPMA)" in place of this test.

PLEASE NOTE: Depending on the type and size of cytogenetic abnormality detected in the proband, parental FISH analyses may be recommended over parental microarray analyses. If uncertain which parental testing should be ordered, please call the Cytogenetic Laboratory (614) 722-5321 and ask to speak with a laboratory genetic counselor.

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 cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

CPT Codes

81229

Lab Area

Institute for Genomic Medicine

Synonyms

  • Parental follow-up microarray, Microarray analysis on parental sample, Parental microarray for known genomic loss/gain, Parental aCGH, Parental array, Parental CGH, Parental chromosomal microarray (CMA), Parental whole genome microarray, Parental CGH+SNP, Parental SNP array, Parental SNP chip, IGM Test

Estimated Patient Price

$1,000 - $2,500
Overview/Billing

Synonyms

  • Parental follow-up microarray, Microarray analysis on parental sample, Parental microarray for known genomic loss/gain, Parental aCGH, Parental array, Parental CGH, Parental chromosomal microarray (CMA), Parental whole genome microarray, Parental CGH+SNP, Parental SNP array, Parental SNP chip, IGM Test

CPT Codes

81229
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 cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Methodology

DNA extraction, Microarray analysis
NCH Lab Only

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 3-4 mL Preferred
Buccal swab  Buccal swab kit 4 swabs Alternate
Saliva Oragene saliva collection tube 2 tubes Preferred

Minimum Volume

Specimen Type Type of Container Minimum Volume
Whole blood 4 mL Purple tube (EDTA) 1 mL
Buccal swab  Buccal swab kit 2 swabs
Saliva Oragene saliva collection tube 1 tube

Container Image

Inpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Outpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

InLab Processing

Send to Cytogenetics Lab with all submitted paperwork. CPA needs to order GENSP in Sunquest for Non-EPIC lab order. For saliva sample, families can collect sample at home and can mail in the sample and lab order to CPA or drop off the sample with a copy of lab order at a NCH lab location to be forwarded to CPA.

Stability

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature 7 days

Saliva: Room temperature 6 month(s)

Unacceptable Conditions

Frozen specimen, Clotted specimen, Wrong collection tube, Centrifuged specimen, Serum sample

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required;. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. When ordering this test, please provide the following information on the test requisition form: 1) previously tested Proband's Name, 2) Proband's Date of Birth and/or Proband's Test Accession Number.

Although a blood sample is the preferred sample type, saliva and buccal samples are also accepted for this test.

This test is available for biological parents (mother and father) of a proband who previously had cytogenetic abnormality detected by Nationwide Children's laboratory, such as parents of a proband who had a genomic loss and/or gain detected by chromosomal microarray analysis. If the proband's cytogenetic abnormality was detected by an outside laboratory or if the patient to be tested is a family member of, but not biological parents of, the proband (e.g. grandparent, sibling, aunt/uncle, cousin, etc), then please order a test called "SNP Microarray Analysis (test code: SNPMA)" in place of this test.

PLEASE NOTE: Depending on the type and size of cytogenetic abnormality detected in the proband, parental FISH analyses may be recommended over parental microarray analyses. If uncertain which parental testing should be ordered, please call the Cytogenetic Laboratory (614) 722-5321 and ask to speak with a laboratory genetic counselor.

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 cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Synonyms

  • Parental follow-up microarray, Microarray analysis on parental sample, Parental microarray for known genomic loss/gain, Parental aCGH, Parental array, Parental CGH, Parental chromosomal microarray (CMA), Parental whole genome microarray, Parental CGH+SNP, Parental SNP array, Parental SNP chip, IGM Test

Methodology

DNA extraction, Microarray analysis

CPT Codes

81229

Estimated Patient Price

$1,000 - $2,500

DC Code

5321

Downtime Availability

4-Not available

Lab Area

Lab Area
Institute for Genomic Medicine