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
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
Commissioning group
Core
Overlapping idications
• R53 Fragile X syndrome should be used for individuals with suspected fragile X syndrome • 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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form