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Antithrombin Mutation Analysis
Clinical Genetic Test
Help
offered by
Molecular Haemostasis & Thrombosis
GTR Test Accession: Help GTR000320842.2
INHERITED DISEASEHEMATOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2021-11-17
View version history
Last annual review date for the lab: 2024-10-31 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Hereditary antithrombin deficiency
Genes (1): Help
SERPINC1 (1q25.1)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
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
Test short name: Help
AT_MUT
Specimen Source: Help
  • Amniotic fluid
  • Buccal swab
  • Chorionic villi
  • Cord blood
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
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 additional service: Help
Custom Prenatal Testing
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:
Test Order Code, 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: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
* Instrument: Not provided
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)

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variant is excluded as a known SNP by searching databases e.g. gnomAD, dbSNP, 1000 Genome etc. In silico analysis is performed to assess probability of variant being pathogenic. ACMG variant guidelines used to assess pathogenicity. Assessment of whether the variant co-segregates with the disease phenotype where possible.

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

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. If significant
Recommended fields not provided:
Clinical validity, Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
Results are confirmed on an independent amplification & sequence from the primary sample - where possible in the alternate direction.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analysis of coding and immediate flanking regions of the gene, with MLPA reflex testing if indicated, 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 & Franklin used for variant analysis.

Laboratory's policy on reporting novel variations Help
Interpretation of in silico analysis is included on the report. ACMG variant guidelines used to score pathogenicity.
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
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.