Carrier/Mutation-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.

Ordering

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

Billing

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

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.

Ordering

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

Billing

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

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

Billing

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

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)

Billing

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

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)

Billing

81401x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

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)

Billing

81401x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

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

Billing

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

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Carrier testing for a specific variant(s) previously identified in a family at this laboratory.

Ordering

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

Billing

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

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Carrier testing for a specific variant(s) previously identified in a family at this laboratory.

Ordering

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

Billing

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