BAG3 - Myopathy, myofibrillar, 6
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000508377.1
INHERITED DISEASEMUSCULOSKELETALCARDIOVASCULAR ... View more
Last updated in GTR: 2013-10-08
Last annual review date for the lab: 2024-03-13 LinkOut
At a Glance
Diagnosis
Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; Myofibrillar myopathy
Genes (1): Help
BAG3 (10q26.11)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
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Ordering Information
Offered by: Help
MGZ Medical Genetics Center
View lab's website
Test short name: Help
BAG3
Specimen Source: Help
  • Amniotic fluid
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Urine
  • View specimen requirements
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.
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Identity Testing
Preimplantation Genetic Diagnosis (PGD)
Result interpretation
Uniparental Disomy (UPD) Testing
X-Chromosome Inactivation Studies
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
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity >98%, specifity >99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Alamut, MutationTaster
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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