Test Catalog

Family study of congenital coagulopathies

Code: 70816

Type: Estudi de coagulopaties congènites

Clinical information

Diagnostic Utility:

Determine the presence of the mutation causing the pathology in samples from relatives of patients affected by some coagulation deficits. Studying the mutation in relatives will allow for genetic counselling.

Analysis of the region of the gene(s) where the mutation causing the familial pathology is located using different techniques that may vary depending on the type of mutation. The familial study of congenital coagulopathies can be requested in cases where the causing mutation is known in the probands.

Method:

Genetic analysis of the specific region of the gene where the familial reference mutation is identified. Depending on the type of mutation, sequencing by Sanger, LR-PCR, or MLPA will be performed.

Reference Values

Not applicable

Diagnostic Algorithm:

Not applicable

Turnaround Time:

15 working days. In the case of haemophilia, women who are found to be non-carriers of the mutation responsible for the familial pathology will be requested to provide a new sample to verify the result before issuing the final report.

Specimen information

Sample: Whole blood
Tube: EDTA K3 tube 5-10 ml if it is a blood sample
Minimum essential volume: 3 ml

Stability:

  • At room temperature: 4 days
  • In refrigeration: 10 days

Transport instructions: Preferably at room temperature

Reason for rejection: Coagulated and/or incorrectly identified sample.

Other types of accepted samples:

  • Purified DNA, minimum 300 ng (30 ng/µL)
  • Buccal mucosa: contact the laboratory to inquire about sample collection specifications.

Administrative information

BST Code: LRD2223
Test Description: Study of congenital coagulopathies in the family.
Synonyms: Family molecular study, family genetic study.
Section: Congenital Coagulopathies
BST Fee: Check the updated fees here.

In the molecular study request form, the FAMILY box must be checked and the name of the proband and the family relationship with the patient indicated, in addition to completing the phenotypic and molecular data available.

Profiles:

Not applicable.

References

  • DNA Sequencing by Capillary Electrophoresis. Applied Biosystems Chemistry Guide. Second Edition.

Base de dades de mutacions