Clinical Indication ID & Name
Premature ovarian insufficiency
Test Group
Core
Specialties
Test code
R402.1
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Karyotype or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Four consecutive months of unexplained amenorrhoea (primary or secondary), AND
2. Elevated serum FSH of >30IU/L on two separate occasions at least 6 weeks apart, AND
3. Age of onset is <30 years, AND
4. Non-genetic causes have been excluded including presence of thyroid and adrenal auto-antibodies
Note: Application of either karyotype or Targeted Chromosome Analysis (TCA) will be directed by professional judgement, best practice recommendation, clinical context and/or the type of cytogenetic rearrangement(s) detected. Due to the nature of cytogenetic analysis, reportable cytogenetic incidental findings may be detected during TCA.
Test code
R402.2
Test name
N/A
Target genes
FMR1 STR
Test scope
n/a
Test method/ technology
STR testing
Optimal Family Structure
n/a
Eligibility Criteria
1. Four consecutive months of unexplained amenorrhoea (primary or secondary), AND
2. Elevated serum FSH of >30IU/L on two separate occasions at least 6 weeks apart, AND
3. Age of onset is <30 years, AND
4. Non-genetic causes have been excluded including presence of thyroid and adrenal auto-antibodies
Note: Application of either karyotype or Targeted Chromosome Analysis (TCA) will be directed by professional judgement, best practice recommendation, clinical context and/or the type of cytogenetic rearrangement(s) detected. Due to the nature of cytogenetic analysis, reportable cytogenetic incidental findings may be detected during TCA.
Commissioning group
Core
Overlapping idications
• R54 Hereditary ataxia with onset in adulthood test should be used in preference in individuals with adult onset ataxia given the broad range of possible causes
Address for samples/request forms
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old Sample Storage and Volume Required: 5ml of peripheral blood in a lithium heparin bottle. Storage, sample packing and transportation: Samples should arrive within 72 hours (preferably 24 hours) of sampling. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Do not spin down or freeze samples before sending.