Muscular Dystrophy: Limb Girdle - autosomal dominant
GTR Test Accession: Help GTR000514787.2
MUSCULOSKELETALINHERITED DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2015-12-20
Last annual review date for the lab: 2024-03-13 LinkOut
At a Glance
Diagnosis
Duchenne muscular dystrophy; Autosomal dominant centronuclear myopathy; Becker muscular dystrophy; ...
Genes (5): Help
CAV3 (3p25.3), DES (2q35), DNAJB6 (7q36.3), LMNA (1q22), MYOT (5q31.2)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
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Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
Lab contact: Help
Angela Abicht, MD, Lab Director
abicht@mgz-muenchen.de
+49 8930908860
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Not provided
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Our diagnostic criteria requires: (i) at least 98% of the sequencing reads have a quality score (Q) above 30 (99,9% accurate), (ii) a median per base sequence quality score (Q) above 30 (99,9% accurate), (iii) at least 98% of the region of interest have over 20-fold per base coverage.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN

Description of PT method: Help
Molecular Genetics Sequencing
VUS:
Laboratory's policy on reporting novel variations Help
Decline to answer
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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