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Hereditary Neuropathy Panel

The Hereditary Neuropathy Panel is available as a sponsored testing program, sponsored by Taysha Gene Therapies.

New York
Approved


Genes

AARS, ABHD12, AIFM1, ATL1, ATL3, ATP7A, BAG3, BICD2, BSCL2, CHCHD10, CNTNAP1, COX6A1, CYP27A1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, RETREG1, FBXO38, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, GNB4, HADHA, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PNKP, PRDM12, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN11A, SCN9A, SCO2, SEPT9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SPG11, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, TTR, VAPB, VCP, VRK1, WNK1, YARS

Conditions

  • Brown-Vialetto-Van Laere Syndrome
  • Charcot Marie Tooth (CMT)
  • CMT with Focal Segmental Glomerulosclerosis
  • Congenital Insensitivity to Pain (CIP)
  • Congenital Insensitivity to Pain with Anhidrosis
  • Distal Hereditary Motor Neuropathy
  • Fabry Disease
  • Familial Dysautonomia
  • Familial Transthyretin Amyloidosis
  • Giant Axonal Neuropathy (GAN)
  • Hereditary Motor and Sensory Neuropathy (HMSN)
  • Hereditary Sensory and Autonomic Neuropathy (HSAN)
  • HSAN with Spastic Paraplegia
  • Inherited Erythromelalgia (IEM)
  • Menkes Disease
  • Occipital Horn Disease
  • Paroxysmal Extreme Pain Disorder (PEPD)
  • Riley Day Syndrome
  • Rosenberg-Chutorian Syndrome
  • Small Fiber Neuropathy (SFN)
  • Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Important Information

The Hereditary Neuropathy Panel is available as a sponsored testing Program, sponsored by Taysha Gene Therapies.

ELIGIBILITY CRITERIA CONFIRMATION
The ordering provider attests the patient is eligible for the Program, which is available to patients who meet all four of the criteria listed below:

  1. The Patient must reside in the United States
  2. The Patient must be affected with neuropathy
  3. The Patient must not have prior genetic neuropathy confirmed by DNA test
  4. The Patient must be 18 years old or younger

For more information, please visit the Taysha Gene Therapies page. Sample collection kits can be ordered as part of the online ordering process in the GeneDx portal or via the supplies ordering page.

Test Code

737

CPT Codes*

81448x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.