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

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

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

9017
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

81401x1
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

9020
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
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

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.