Hereditary Neuropathy Panel

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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

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.

**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.

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