Hereditary Neuropathy Panel

Synonyms

  • HEREDITARY NEUROPATHY PANEL
  • LAB11557
  • NEUROSEQ

Cerner Name

Hereditary Neuropathy Panel

Clinical Info

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

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

2 - 5 mL whole blood

Container

 Lavender Top Tube or Buccal (Oral Cheek Swab)

Collection Instructions

Container/Tube:  Lavender top tube
Specimen: 2 - 5 mL whole blood
Transport Temperature: Room Temperature

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-Gen Sequencing
Deletion/Duplication Analysis

Days Performed

Performing Laboratories

GeneDx

CPT

81448

PDM

1659921

Results
Component Name Base Name Common Name External Name
HEREDITARY NEUROPATHY PANEL HEREDNEURPL HEREDITARY NEUROPATHY PANEL Hereditary Neuropathy Panel

Result Interpretation

See Report
 
Includes 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
 

Forms
Molecular-send outs LAB11557 build edit