FGFR-Related Disorders Panel

New York
Approved


Genes

FGFR1, FGFR2, FGFR3

Conditions

  • Apert Syndrome
  • Beare-Stevenson Cutis Gyrata Syndrome
  • Crouzon Syndrome (with or without Acanthosis Nigricans)
  • Isolated Gonadotropin-releasing Hormone Deficiency (IGD)
  • Jackson-Weiss Syndrome
  • Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome
  • Muenke Syndrome
  • Pfeiffer Syndrome
  • Bent Bone Dysplasia
  • Achondroplasia (ACH)
  • Hypochondroplasia (HCH)
  • Kallmann Syndrome
  • Antley-Bixler Syndrome (ABS)
  • Thanatophoric Dysplasia (TD)
  • FGFR-Related Skeletal Dysplasias
  • Hartsfield syndrome

Clinical Utility

  • Diagnosis in a patient based on clinical or radiographic findings suggestive of a skeletal dysplasia
  • Diagnosis for known familial pathogenic variant(s)
  • Distinguish between causes and forms of skeletal dysplasias
  • Genetic counseling, especially regarding recurrence risk

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

TG50

CPT Codes*

81404x2

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Extracted DNA

*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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.