Muscular Dystrophy Advanced Evaluation

Test Code
5501

Test Details


Test code: 5501
Type of disorder: Neuromuscular Disorders
Typical presentation: Muscle weakness and wasting of variable and heterogeneous severity, age of onset, rate of progression, mode of inheritance, and complications.
Disease(s) tested for: Muscular Dystrophy
Genes Included: ANO5, CAPN3, CAV3, CCDC78, DAG1, DES, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, ISPD, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, PTRF, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TRAPPC11, TRIM32, TTN
Informed Consent Required: Yes

Technical Information


Utility: Detects sequence variations in 33 genes, including duplications/deletions in 4 of these genes.
Methodology: Next Generation Sequencing, Dosage Analysis
Reference Value: No mutations detected. No deletions or duplications detected.

CPT Coding


The CPT codes provided are based on AMA guidelines and 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.

CPT: 81404(4), 81405(9), 81406(8), 81408(2), 81161(1), 81479(1)

Specimen Requirements


Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Stability Notes: DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
Adult Preferred Volume: 8 mL
Adult Minimum Volume: 6 mL
Pediatric Preferred Volume: 2 mL
Pediatric Minimum Volume: 1 mL
Collection Tube: Lavender top (EDTA)
Collection Notes: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood

Shipping Considerations


Storage Conditions: Room temperature, avoid freezing. Ship same day.
Shipping Conditions: Ship room temperature, avoid freezing.
Test Turnaround: 21-28 days

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