Carrier/Variant-Specific Testing

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Carrier testing for a specific variant previously identified in a family.
  • Clinical laboratory confirmation of one variant identified in a research laboratory.
  • If you would like to order a targeted testing of two variants in the same gene please use test code 9012.
  • For specimens drawn in New York, carrier or targeted variant testing is an approved test if the family had previous testing at GeneDx or if the gene itself is in an approved single-gene test or multi-gene panel: NY Test List. In these situations it is not necessary to obtain individual NYSDOH permission.

GeneDx does not currently offer targeted prenatal testing for variants found in Mitochondrial (mtDNA) genes.
To learn more about potential options, or for any questions, please email to zebras@genedx.com

Ordering

9011
2-3 weeks, except for Cardiology/Neurology tests where TAT is 4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

Varies by Gene
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Carrier testing for a specific variants previously identified in a family.
  • Clinical laboratory confirmation of two or more variants identified in a research laboratory.
  • If you would like to order a targeted testing of single variant in the same gene please use test code 9011.
  • For specimens drawn in New York, carrier or targeted variant testing is an approved test if the family had previous testing at GeneDx or if the gene itself is in an approved single-gene test or multi-gene panel: NY Test List. In these situations it is not necessary to obtain individual NYSDOH permission.

GeneDx does not currently offer targeted prenatal testing for variants found in Mitochondrial (mtDNA) genes.
To learn more about potential options, or for any questions, please email to zebras@genedx.com

Ordering

9012
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

Varies by Gene
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

INSTRUCTIONS
FOR SINGLE GENE OR INTRAGENIC KNOWN FAMILIAL CNVS:
1. Email zebras@genedx.com to confirm availability and gene coverage (if needed)
2. Select the gene of interest from the list below
3. Click "ADD TO ORDER"
4. In the Clinical Notes section, provide the variant information (exons involved and transcript number OR genome build and genomic coordinates)
5. Attach the proband's report (if available) to the order via Document Upload, within the order or on the Order details page

FOR MULTIGENIC KNOWN FAMILIAL CNVS:
1. Email zebras@genedx.com to confirm coverage of the genomic region (if needed)
2. Select a gene from within the genomic region from the list below
NOTE: If you do not know any genes within the region OR if you cannot find any genes within the region from the list below, select “XYZ” from the list as a placeholder.
3. Click "ADD TO ORDER”
4. In the Clinical Notes section, provide the variant information (genome build and genomic coordinates)
5. Attach the proband's report (if available) to the order via Document Upload, within the order or on the Order details page

CREATE A CUSTOM PANEL

Test Details

  • Carrier testing for a specific deletion previously identified in a family member at GeneDx.

Ordering

905
2-4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

Varies by Gene
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

  • Carrier testing for a specific mutation previously identified in a family.
  • Clinical laboratory confirmation of one or more mutations identified in a research laboratory

Ordering

453
3-4 weeks
Solid Tissue (>50 mg Muscle, Liver, Heart, Kidney or Brain-Flash Frozen) | 2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Cultured Fibroblasts (2-T25 Flasks Near Confluence)

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81401x2
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Testing parent(s) to clarify future reproductive risks when a variant was identified in a child  
  • Testing a parent who is suspected to be mosaic due to a mild clinical presentation or the presence of only certain tissue-specific features of the disorder  
  • Testing additional tissue samples to evaluate for the possibility of tissue-specific mosaicism in a proband  
  • CLIA confirmation of suspected mosaic findings identified by a research study
  • For more information regarding Mosaic Carrier Testing, please Click Here

Insurance billing not accepted

Ordering

J829
3 weeks
For Specimen Options, Please call 1-888-729-1206 (301-519-2100)
For Specimen Options, Please call 1-888-729-1206 (301-519-2100)

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
No
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

  • Carrier testing for a specific mutation previously identified in another tissue or family member.
  • Clinical laboratory confirmation of one or more mutations identified in a research laboratory

Urine is only accepted specimen type for this targeted mtDNA variant test.

Ordering

T822
3-4 weeks
30 - 50 mL Urine

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81403x3
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Targeted testing for pathogenic or likely pathogenic variant(s) previously identified in a family at GeneDx
  • For specimens drawn in New York, carrier or targeted variant testing is an approved test if the family had previous testing at GeneDx or if the gene itself is in an approved single-gene test or multi-gene panel: NY Test List. In these situations it is not necessary to obtain individual NYSDOH permission.

Ordering

TF68
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

Varies by Gene(s)
Yes
No
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Targeted testing for pathogenic or likely pathogenic variant(s) previously identified in a family at GeneDx.
  • For specimens drawn in New York, carrier or targeted variant testing is an approved test if the family had previous testing at GeneDx or if the gene itself is in an approved single-gene test or multi-gene panel: NY Test List. In these situations it is not necessary to obtain individual NYSDOH permission.

Ordering

TF91
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

Varies by Gene(s)
Yes
No
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • To identify potentially low level constitutional mosaicism for a specific variant of interest in the following situations:
    • When mosaicism is identified or suspected based on prior genetic testing done on a blood, buccal, or oral rinse specimen (testing a different tissue type is recommended)
    • A variant identified on a prior somatic tumor panel to assess whether the variant occurs at a lower allele fraction
    • Testing parent(s) to clarify future reproductive risks when a variant was identified in a child
    • CLIA confirmation of suspected mosaic findings identified by a research study

GeneDx offers targeted testing to evaluate for potentially low level mosaicism for a familial variant previously identified in an individual or in a relative. The Hereditary Cancer Mosaic Variant Test could be considered in the following scenarios:

  • When mosaicism is identified or suspected based on prior genetic test results (hereditary or somatic) (testing a different tissue type is recommended)
  • Testing parent(s) to clarify future reproductive risks when a variant was identified in a child
  • CLIA confirmation of suspected mosaic findings identified by a research study

 
Mosaic variant analysis is available for most genes on the GeneDx testing menu. In many cases, mosaic variant analysis is also available for individuals who had variants identified by testing at an outside laboratory or as part of a research study. At this time, mosaic variant analysis is not available for copy number variants (CNVs). Additionally, there are some genes or portions of genes are not amenable to mosaic variant analysis for sequencing variants. If prior trio testing was performed including the patient and both parents as part of exome or genome sequencing, an Xpanded panel, or another testing scenario, please contact GeneDx in advance of sample submission to discuss the utility of mosaic variant analysis.
 
GeneDx can isolate DNA directly from skin punch biopsies or from cultured fibroblasts, which is indicated when blood/buccal/oral rinse are not appropriate specimen types due to a patient’s personal history of Bone Marrow Transplant (BMT) or certain hematologic conditions. For more information regarding Skin Punch Biopsy Collection, and to learn about Specimen Considerations for Individuals with Hematologic Diseases, please visit the Specimen Requirements Page.

Insurance billing not accepted

Ordering

TB54
4 weeks
For Specimen Options, Please call 1-888-729-1206 (301-519-2100)
For Specimen Options, Please call 1-888-729-1206 (301-519-2100)

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
No
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.