In order to ensure 2023 billing, testing must be activated before the end of the year, or within 30 days of proband sample collection (if sample was collected in 2023). For Exome, Genome, or Xpanded testing, if you do not expect parental samples to be received in time for testing to be activated with 2023 billing, please contact us at [email protected] to determine how to proceed.

FGFR-Related Disorders Panel

New York




  • 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


CPT Codes*

81405x1, 81479x1

ABN Required


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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.