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Test Code
5240
Test Name
Distal Myopathy NGS Panel
CPT Codes
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

The Distal myopathy NGS panel consists of 20 genes: ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN and VCP. Mutations in these genes cause genetically and clinically heterogeneous group of disorders characterized by muscular dystrophy with predilection for distal muscles.

Gene

Disorder

MIM

Inheritance

ANO5

Muscular dystrophy, limb-girdle, type 2L (LGMD2L)

Miyoshi muscular dystrophy 3 (MMD3)

611307

613319

AR

AR

BAG3

Cardiomyopathy, dilated, 1HH (CMD1HH)

Myopathy, myofibrillar, 6 (MFM6)

613881

612954

AD

AD

CAV3

Cardiomyopathy, familial hypertrophic (CMH1)

Muscular dystrophy, limb-girdle, type IC (LGMD1C)

Myopathy, distal, Tateyama type (MPDT)

Rippling muscle disease (RMD)

192600

607801

614321

606072

AD

AD / AR

AD

AD

CRYAB

Myopathy, myofibrillar, 2 (MFM2)

Cardiomyopathy, dilated, 1II (CMD1II)

Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related

608810

615184

613869

AD

AD

AR

DES

Myopathy, myofibrillar, 1 (MFM1)

Cardiomyopathy, dilated, 1I (CMD1I)

Muscular dystrophy, limb-girdle, type 2R (LGMD2R)

Scapuloperoneal syndrome, neurogenic, Kaeser type (SCPNK)

601419

604765

615325

181400

AD / AR

AD

AR

AD

DNAJB6

Muscular dystrophy, limb-girdle, type 1E (LGMD1E)

603511

AD

DNM2

Charcot-Marie-Tooth disease, dominant intermediate B (CMTDIB)

Charcot-Marie-Tooth disease, axonal, type 2M (CMT2M)

Lethal congenital contracture syndrome 5 (LCCS5)

Myopathy, centronuclear (CNM1)

606482

606482

615368

160150

AD

AD

AR

AD

DYSF

Myopathy, distal, with anterior tibial onset (DMAT)

Muscular dystrophy, limb-girdle, type 2B (LGMD2B)

Miyoshi muscular dystrophy 1 (MMD1)

606768

253601

254130

AR

AR

AR

FHL1

Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6)

Myopathy, X-linked, with postural muscle atrophy (XMPMA)

Reducing body myopathy, X-linked 1a, severe,

infantile or early childhood onset (RBMX1A)

Reducing body myopathy, X-linked 1b,

with late childhood or adult onset (RBMX1B)

Scapuloperoneal myopathy, X-linked dominant (SPM)

300696

300696

300717

300718

300695

XLR

XLR

XLD

XL

XLD

FLNC

Myopathy, myofibrillar, 5 (MFM5)

Cardiomyopathy, familial hypertrophic, 26 (CMH26) / familial restrictive 5 (RCM5)

Myopathy, distal, 4 (MPD4)

609524

617047

614065

AD

AD

AD

GNE

Nonaka myopathy (NM)

605820

AR

LDB3

Cardiomyopathy, dilated, 1C, with or without LVNC (CMD1C)

Cardiomyopathy, hypertrophic, 24 (CMH24)

Myopathy, myofibrillar, 4 (MFM4)

601493

601493

609452

AD

AD

AD

MATR

Amyotrophic lateral sclerosis 21 (ALS21)

606070

AD

MYH7

Cardiomyopathy, dilated, 1S (CMD1S)

Cardiomyopathy, hypertrophic, 1 (CMH1)

Laing distal myopathy (MPD1)

Myopathy, myosin storage, autosomal dominant (MSMA)

Myopathy, myosin storage, autosomal recessive (MSMB)

Scapuloperoneal myopathy, MYH7-related (SPMM)

613426

192600

160500

608358

255160

181430

AD

AD

AD

AD

AR

AD

MYOT

Muscular dystrophy, limb-girdle, type 1A (LGMD1A)

Myopathy, myofibrillar, 3 (MFM3)

Myopathy, spheroid body

159000

609200

182920

AD

AD

AD

SQSTM1

Frontotemporal dementia and/or

amyotrophic lateral sclerosis 3 (FTDALS3)

Myopathy, distal, with rimmed vacuoles (DMRV)

Neurodegeneration with ataxia, dystonia,

and gaze palsy, childhood-onset (NADGP)

Paget disease of bone 3 (PDB3)

616437

617158

617145

167250

AD

AD

AR

AD

TCAP

Cardiomyopathy, hypertrophic, 25 (CMH25)

Muscular dystrophy, limb-girdle, type 2G (LGMD2G)

607487

601954

AD

AR

TIA1

Welander distal myopathy (WDM)

604454

AD / AR

TTN

Cardiomyopathy, dilated, 1G (CMD1G)

Cardiomyopathy, familial hypertrophic, 9 (CMH9)

Muscular dystrophy, limb-girdle, type 2J (LGMD2J)

Myopathy, early-onset, with fatal cardiomyopathy (EOMFC)

Myopathy, proximal, with early respiratory muscle involvement (HMERF)

Tibial muscular dystrophy, tardive (TMD)

604145

613765

608807

611705

603689

600334

AD

AD

AR

AR

AD

AD

VCP

Amyotrophic lateral sclerosis 14, with or

without frontotemporal dementia (ALS14)

Charcot-Marie-Tooth disease, type 2Y (CMT2Y)

Inclusion body myopathy with early-onset Paget disease

and frontotemporal dementia 1 (IBMPFD1)

613954

616687

167320

AD

AD

AD
Testing Schedule
Monday-Friday
Genes
ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP
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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