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Test Code
5202
Test Name
Distal Hereditary Motor Neuropathy And Related Disorders NGS Panel
CPT Codes
81404, 81405, 81406, 81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

Distal hereditary motor neuropathy is a clinically and genetically heterogeneous group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord. It is a progressive disorder resulting in severe atrophy and wasting of distal limb muscles usually without sensory impairment.

The Distal hereditary motor neuropathy and related disorders NGS panel consists of twenty-four genes: ATP7A, BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7 and TRPV4.

 

Gene

Disorder

MIM

Inheritance

ATP7A

Spinal muscular atrophy, distal, X-linked 3 (SMAX3)

300489

XLR

BICD2

Spinal muscular atrophy, lower extremity-predominant, 2, 

autosomal dominant (SMALED2)

615290

AD

BSCL2

Neuropathy, distal hereditary motor, type VA (HMN5A)

600794

AD

DCAF8

Giant axonal neuropathy 2, autosomal dominant (GAN2)

610100

AD

DCTN1

Neuropathy, distal hereditary motor, type VIIB (HMN7B)

607641

AD

DNAJB2

Spinal muscular atrophy, distal, autosomal recessive, 5 (DSMA5)

614881

AR

DYNC1H1

Spinal muscular atrophy, lower extremity-predominant, 1, 

autosomal dominant (SMALED1)

158600

AD

FBXO38

Neuronopathy, distal hereditary motor, type IID (HMN2D)

615575

AD

GAN

Giant axonal neuropathy 1, autosomal recessive (GAN1)

256850

AR

GARS

Neuropathy, distal hereditary motor, type VA (HMN5A)

600794

AD

GJB1

Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (CMTX1)

302800

XLD

HARS

Charcot-Marie-Tooth disease, axonal, type 2WC (CMT2W)

616625

AD

HINT1

Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)

137200

AR

HSPB1

Neuropathy, distal hereditary motor, type IIB (HMN2B)

608634

AD

HSPB3

Neuronopathy, distal hereditary motor, type IIC (HMN2C)

613376

AD

HSPB8

Neuropathy, distal hereditary motor, type IIA (HMN2A)

158590

AD

IGHMBP2

Neuronopathy, distal hereditary motor, type VI (DSMA1)

604320

AR

PDK3

Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6)

300905

XLD

PLEKHG5

Spinal muscular atrophy, distal, autosomal recessive, 4 (DSMA4)

611067

AR

REEP1

Neuronopathy, distal hereditary motor, type VB (HMN5B)

614751

AD

SETX

Spinocerebellar ataxia, autosomal recessive 1 (SCAR1)

606002

AR

SIGMAR1

Spinal muscular atrophy, distal, autosomal recessive, 2 (DSMA2)

605726

AR

SLC5A7

Neuronopathy, distal hereditary motor, type VIIA (HMN7A)

158580

AD

TRPV4

Hereditary motor and sensory neuropathy, type IIC (HMSN2C)

606071

AD
Testing Schedule
Monday-Friday
Genes
ATP7A, BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, TRPV4
Disease Group
Neuromuscular
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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