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MYH9-related disorders
Clinical Genetic Test
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offered by
Molecular Haemostasis & Thrombosis
View lab's test page
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GTR Test Accession: Help GTR000326380.2
INHERITED DISEASEHEMATOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2021-11-18
View version history
Last annual review date for the lab: 2021-11-18 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Genes (1): Help
MYH9 (22q12.3)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Patients with familial macrothrombocytopenia, especially if other syndromic features are …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis; Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Molecular Haemostasis & Thrombosis
View lab's website
View lab's test page
Test short name: Help
MYH9-RD
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buccal swab
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Isolated DNA
  • Peripheral (whole) blood
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
MYH9
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
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy
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: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
ABI 3130xl
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
Applied Biosystems 3130xl capillary sequencer
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Predictive risk information for patient and/or family members
View citations (1)

Target population: Help
Patients with familial macrothrombocytopenia, especially if other syndromic features are present such as deafness, kidney problems, dohle bodies etc.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Exclude as a SNP - search gnomAD, db-SNP etc. In silico analysis. Does variant co-segregate with the disease phenotype. ACMG variant analysis guidelines used.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. If possible

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. If significant
Recommended fields not provided:
Clinical validity, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Result confirmed on an independent analysis from the initial sample.
Test Confirmation: Help
Result confirmed on an independent analysis from the initial sample.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analysis of coding & immediate flanking regions should provide a >95% sensitivity - based on current knowledge.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Alamut and others available on-line e.g. PMut Varsome and Franklin used for variant analysis.

Laboratory's policy on reporting novel variations Help
In silico analysis included on report with interpretation. ACMG variant analysis guidelines used. Follow-up discussion available.
Recommended fields not provided:
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
Category: Not Applicable
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.