Inpatient and Outpatient Orderable

Hereditary Neuropathy Panel Build info

Synonyms

  • HEREDITARY NEUROPATHY PANEL
  • NEUROSEQ
  • LAB11557

Procedure Name

HEREDITARY NEUROPATHY PANEL

Procedure Master Number

LAB11557

Procedure ID

115429

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

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

Specimen Volume

2 - 5 mL whole blood

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-Gen Sequencing
Deletion/Duplication Analysis

Days Performed

Performing Laboratory

GeneDx

CPT

81448

PDM

 1659921

Only Orderable at Locations:

 Orderable Everywhere

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
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