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Test Code
5220
Test Name
Myofibrillar Myopathy 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
Alternate Names
MFM
Description

Myofibrillar myopathy (MFM) is a genetically heterogeneous group of diseases with similar histological findings including an abnormal accumulation of intrasarcoplasmic proteins and progressive myofibrillar degeneration beginning at the Z-disk. The typical age of onset is in mid-adulthood, but it can vary from infancy to late adulthood. Most patients have both proximal and distal muscle weakness. Additional findings may include cardiomyopathy, respiratory failure, muscle pain and peripheral neuropathy.

The Myofibrillar myopathy and related disorders NGS panel consists of eleven genes: ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT and PYROXD1.

Gene

Disorder

MIM

Inheritance

ACTA1

Myopathy, myofibrillar, ACTA1 related

Nemaline myopathy 3, autosomal dominant or recessive (NEM3)

Myopathy, congenital, with fiber-type disproportion

-

161800

255310

AR

AD / AR

AD / AR

BAG3

Myopathy, myofibrillar, 6 (MFM6)

612954

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

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

XLD

XLD

FLNC

Myopathy, myofibrillar, 5 (MFM5)

Cardiomyopathy, familial hypertrophic, 26 (CMH26)

Myopathy, distal, 4 (MPD4)

609524

617047

614065

AD

AD

AD

KY

Myopathy, myofibrillar, 7 (MFM7)

605739

AR

LDB3

Myopathy, myofibrillar, 4 (MFM4) 

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

609452

601493

AD

AD

MYOT

Myopathy, myofibrillar, 3 (MFM3)

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

Myopathy, spheroid body

609200

159000

182920

AD

AD

AD

PYROXD1

Myopathy, myofibrillar, 8 (MFM8)

617258

AR
Testing Schedule
Monday-Friday
Genes
ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1
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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