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Myotilinopathy Testing
Clinical Genetic Test
Help
offered by
FirmaLab
View lab's test page
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GTR Test Accession: Help GTR000327731.3
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Last updated in GTR: 2016-12-28
View version history
Last annual review date for the lab: 2023-01-23 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (1): Help
Myofibrillar myopathy 3
Genes (1): Help
MYOT (5q31.2)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
FirmaLab
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Buccal swab
  • Cell-free DNA
  • Cerebrospinal fluid
  • Chorionic villi
  • Cord blood
  • Cystic hygroma fluid
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Skin
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, How to Order, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
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: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
>97% and expected 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.