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Whole exome
Research Genetic test
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offered by
NIEHS Clinical Research Unit
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GTR Test Accession: Help GTR000613386.1
INHERITED DISEASEENDOCRINOLOGYREPRODUCTIVE HEALTH ... View more
Registered in GTR: 2024-09-06
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At a Glance
Conditions (5): Help
Hypogonadism with anosmia; Central precocious puberty; Congenital hypogonadotropic hypogonadism more...
Genes (3): Help
ANOS1 (Xp22.31); MKRN3 (15q11.2); SMCHD1 (18p11.32)
Study description: Help
The goal of this study is to learn more about …
Recruitment status: Help
Currently open
Eligibility criteria: Help
You may be eligible to participate in this study if …
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Name: Help
Inherited Reproductive Disorders
ClinicalTrials.gov identifier: Help
NCT01500447
Protocol number: Help
12-E-0049
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
The goal of this study is to learn more about the body’s regulation of puberty and reproduction. Scientists will study people who have an abnormality in certain hormone levels, which may result in specific differences in fetal development, irregular timing of puberty, or abnormal fertility. Because we are studying how … View more
Study type: Help
Observational study
Offered by: Help
NIEHS Clinical Research Unit
Person responsible for the study: Help
Natalie Shaw, MD, ABP, Staff
Study contact: Help
Natalie Shaw, MD, ABP, Staff
Co-investigator: Help
Natalie Shaw, MD, ABP, Staff
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
You may be eligible to participate in this study if you: Began early puberty before age 7. Had late or no puberty by age 14. Had normal puberty with low hormone levels. Had loss of reproductive activity sometime after puberty.
Consent form: Help
Not provided
Conditions Help
Total conditions: 5
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Test Confirmation: Help
New sample, sent to CLIA-certified laboratory
Additional Information

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