Test Directory

Clear All
Test Code
5217
Test Name
Limb Girdle Muscular Dystrophy NGS Panel
CPT Codes
81404, 81405, 81406, 81408, 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

Limb-girdle muscular dystrophies comprises a group of clinically and genetically highly heterogeneous disorders. The common features include progressive weakness of proximal muscles, increased plasma creatine kinase levels and abnormal muscle histopathology. It is characterized by wide variability in clinical features, rate of progression, and age of onset (from childhood to adulthood).

The Limb girdle muscular dystrophy NGS panel consists of thirty-five genes: ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LARGE1, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32 and TTN.

 

Gene

Disorder

MIM

Inheritance

ANO5

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

Miyoshi muscular dystrophy 3 (MMD3)

611307

613319

AR

AR

CAPN3

Muscular dystrophy, limb-girdle, type 2A (LGMD2A)

253600

AR

CAV3

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

Myopathy, distal, Tateyama type (MPDT)

Rippling muscle disease (RMD)

607801

614321

606072

AD/AR

AD

AD

DAG1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

type A, 9 (MDDGA9)

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (MDDGC9)

616538

613818

AR

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

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

EMD

Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1)

310300

XLR

FHL1

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

300717

300718

300695

XLR

XLD

XL

XLD

FKRP

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

type A, 5 (MDDGA5)

Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation),

type B, 5 (MDDGB5)

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5)

613153

606612

607155

AR

AR

AR

FKTN

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

type A, 4 (MDDGA4)

Muscular dystrophy-dystroglycanopathy (congenital without mental retardation),

type B, 4 (MDDGB4)

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4)

253800

613152

611588

AR

AR

AR

FLNC

Myopathy, distal, 4 (MPD4)

Myopathy, myofibrillar, 5 (MFM5)

614065

609524

AD

AD

GAA

Glycogen storage disease II (GSD2)

232300

AR

GMPPB

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

type A, 14 (MDDGA14)

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation),

type B, 14 (MDDGB14)

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MDDGC14)

615350

615351

615352

AR

AR

AR

HNRNPDL

Muscular dystrophy, limb-girdle, type 1G (LGMD1G)

609115

AD

ISPD

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

type A, 7 (MDDGA7)

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (MDDGC7)

614643

616052

AR

AR

LARGE1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

type A, 6 (MDDGA6)

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

type B, 6 (MDDGB6)

613154

608840

AR

AR

LIMS2

Muscular dystrophy, limb-girdle, type 2W (LGMD2W)

616827

AR

LMNA

Charcot-Marie-Tooth disease, type 2B1 (CMT2B1)

Emery-Dreifuss muscular dystrophy 2, AD (EDMD2)

Emery-Dreifuss muscular dystrophy 3, AR (EDMD3)

Muscular dystrophy, congenital, LMNA-related

Muscular dystrophy, limb-girdle, type 1B (LGMD1B)

605588

181350

616516

613205

159001

AR

AD

AR

AD

AD

MYOT

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

Myopathy, myofibrillar, 3 (MFM3)

Myopathy, spheroid body

159000

609200

182920

AD

AD

AD

PLEC

Muscular dystrophy, limb-girdle, type 2Q (LGMD2Q)

613723

AR

POMGNT1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

type A, 3 (MDDGA3)

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation),

type B, 3 (MDDGB3)

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (MDDGC3)

253280

613151

613157

AR

AR

AR

POMK

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 (MDDGC12)

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

type A, 12 (MDDGA12)

616094

615249

AR

AR

POMT1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

type A, 1 (MDDGA1)

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation),

type B, 1 (MDDGB1)

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (MDDGC1)

236670

613155

609308

AR

AR

AR

POMT2

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

type A, 2(MDDGA2)

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation),

type B, 2 (MDDGB2)

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (MDDGC2)

613150

613156

613158

AR

AR

AR

SGCA

Muscular dystrophy, limb-girdle, type 2D (LGMD2D)

608099

AR

SGCB

Muscular dystrophy, limb-girdle, type 2E (LGMD2E)

604286

AR

SGCD

Muscular dystrophy, limb-girdle, type 2F (LGMD2F)

601287

AR

SGCG

Muscular dystrophy, limb-girdle, type 2C (LGMD2C)

253700

AR

TCAP

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

601954

AR

TNPO3

Muscular dystrophy, limb-girdle, type 1F (LGMD1F)

608423

AD

TOR1AIP1

Muscular dystrophy, limb-girdle, type 2Y (LGMD2Y)

617072

AR

TRAPPC11

Muscular dystrophy, limb-girdle, type 2S (LGMD2S)

615356

AR

TRIM32

Muscular dystrophy, limb-girdle, type 2H (LGMD2H)

254110

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

AR

AD
Testing Schedule
Monday-Friday
Genes
ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LARGE1, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN
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.
© 2026 HNL Lab Medicine. All rights reserved.