Genomic Unity® DMD Gene Analysis

Test Description

Genomic Unity^® DMD Analysis uses a whole genome sequencing platform to diagnose genetic causes of Duchenne and Becker muscular dystrophy in the DMD gene.

When to Order

Order this test when the patient presents with symptoms of muscle weakness consistent with Duchenne muscular dystrophy or Becker muscular dystrophy and you’d like the option to reflex up to Genomic Unity^{^®} Whole Genome Analysis.

For a broader analysis of genes associated with additional muscular dystrophies (Duchenne and Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy, Limb-Girdle muscular dystrophy, Ullrich congenital muscular dystrophy, Walker-Warburg syndrome and other congenital muscular dystrophies), you may want to consider ordering Genomic Unity^{^®} Muscular Dystrophy Analysis.

Included Analyses

Sequencing analysis of the DMD gene
Deletion/duplication analysis of the DMD gene

Optionally includes:

Reflex to Genomic Unity^{^®} Whole Genome Analysis or Genomic Unity^{^®}Exome Analysis

Included Genes

All A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Disorders

This test covers the following disorders:

Becker muscular dystrophy
Duchenne muscular dystrophy

Test Performance

> %

Sensitivity, specificity, and positive predictive value for SNVs and insertions/deletions up to 50bp

Clinical sensitivity for structural variants

CPT Codes

81161, 81408

0218U

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Accepted Specimens

Blood

5ml

Saliva

gDNA

5μg

Contact Us

Please contact customer service for turnaround time and to request a kit.

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