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Parameters

Reports Within:

Parameter Include:

Requisites
Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

The maximum days for obtaining the report for the Muscular Dystrophy & Congenital Myopathy Gene Panel test is 21 days.

What are the prerequisites for the test Muscular Dystrophy & Congenital Myopathy Gene Panel

  • Sample Type: Whole blood in EDTA tube
  • Specimen Volume: 5 ml
  • Specimen Stability: Ambient: 48 hours; Refrigerated: 7 days; Frozen: 1 month
  • Transport Temperature: Room temperature
  • Methodology: Next Generation Sequencing (NGS)
  • Turnaround Time: 20 days
  • Shipping Instructions: Ship at room temperature

What are the measure values for the test Muscular Dystrophy & Congenital Myopathy Gene Panel

  • Gene Panel: Muscular Dystrophy & Congenital Myopathy
  • Measures:
    • ACTA1 Gene Analysis
    • ANO5 Gene Analysis
    • BIN1 Gene Analysis
    • CACNA1S Gene Analysis
    • CALM1 Gene Analysis
    • CAPN3 Gene Analysis
    • CHKB Gene Analysis
    • COL6A1 Gene Analysis
    • COL6A2 Gene Analysis
    • COL6A3 Gene Analysis
    • CPT2 Gene Analysis
    • DNAJB6 Gene Analysis
    • DOK7 Gene Analysis
    • DPAGT1 Gene Analysis
    • DPM1 Gene Analysis
    • DYSF Gene Analysis
    • EMD Gene Analysis
    • ETFA Gene Analysis
    • FHL1 Gene Analysis
    • FKRP Gene Analysis
    • FKTN Gene Analysis
    • FLNC Gene Analysis
    • GAA Gene Analysis
    • GNE Gene Analysis
    • INF2 Gene Analysis
    • LAMA2 Gene Analysis
    • LAMB2 Gene Analysis
    • LAMP2 Gene Analysis
    • LMNA Gene Analysis
    • MATR3 Gene Analysis
    • MYH2 Gene Analysis
    • MYH7 Gene Analysis
    • MYOT Gene Analysis
    • NM_000099.3(MYOT):c.305C>T (p.Arg102Trp) mutation analysis
    • NEB Gene Analysis
    • PGK1 Gene Analysis
    • PRKAG2 Gene Analysis
    • RYR1 Gene Analysis
    • SEPN1 Gene Analysis
    • SGCA Gene Analysis
    • SGCB Gene Analysis
    • SGCD Gene Analysis
    • SGCG Gene Analysis
    • SLC22A5 Gene Analysis
    • SMN1 Gene Analysis
    • TNNT1 Gene Analysis
    • TPM2 Gene Analysis
    • TPM3 Gene Analysis
    • TTR Gene Analysis
    • TTN Gene Analysis
    • UGT1A1 Gene Analysis
    • USP8 Gene Analysis
    • VMA21 Gene Analysis
    • XIRP2 Gene Analysis
    • XLMTM Gene Analysis
    • ZBTB42 Gene Analysis
    • ZMPSTE24 Gene Analysis

What does this test Muscular Dystrophy & Congenital Myopathy Gene Panel identify?

  • Muscular Dystrophy & Congenital Myopathy Gene Panel identifies mutations in genes associated with various types of muscular dystrophy and congenital myopathy. This panel includes analysis of genes such as dystrophin (DMD), myotilin (MYOT), lamin A/C (LMNA), and others that are known to be involved in these conditions.
  • The test can help diagnose specific types of muscular dystrophy and congenital myopathy based on the genetic mutations detected. It can also provide information about disease progression, potential complications, and risk of inheritance for family members.
  • Results from this panel can guide treatment decisions, management strategies, and genetic counseling for individuals with suspected or confirmed muscular dystrophy or congenital myopathy.

Why is this test Muscular Dystrophy & Congenital Myopathy Gene Panel taken?

Individuals may undergo a Muscular Dystrophy & Congenital Myopathy Gene Panel test to identify genetic mutations that are associated with various muscle disorders. This test helps healthcare providers diagnose and differentiate between different types of muscular dystrophy and congenital myopathy, which can have overlapping symptoms.

By analyzing specific genes known to be associated with these conditions, healthcare providers can determine the underlying genetic cause of a patient's muscle weakness, atrophy, and other symptoms. This information is crucial for developing an accurate diagnosis, creating a personalized treatment plan, and providing appropriate genetic counseling to patients and their families.

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