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Kallmann Syndrome
Research Genetic test
Help
offered by
MGH Harvard Center for Reproductive Medicine
View lab's test page
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GTR Test Accession: Help GTR000278766.9
INHERITED DISEASEENDOCRINOLOGYREPRODUCTIVE HEALTH ... View more
Last updated in GTR: 2023-08-04
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Last annual review date for the lab: 2023-08-04 LinkOut
At a Glance
Conditions (2): Help
Hypogonadotropic hypogonadism 7 with or without anosmia; Hypogonadism with anosmia
Genes (59): Help
AMH (19p13.3); AMHR2 (12q13.13); ANOS1 (Xp22.31); AXL (19q13.2); CCDC141 (2q31.2) more...
Study description: Help
The purpose of this research study is to generate information …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Patients with hypogonadotropic hypogonadism and related phenotypes (microphallus, undescended testes, …
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Study Description
Name: Help
Molecular Basis of Inherited Reproductive Disorders
Study short name: Help
REU Genetics Study
ClinicalTrials.gov identifier: Help
NCT05971836
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
The purpose of this research study is to generate information about the hereditary basis of disorders of the reproductive system including early puberty, late puberty, complete absence of puberty (Kallmann Syndrome, Idiopathic Hypogonadotropic Hypogonadism), as well as normal puberty that is accompanied by abnormalities of the reproductive system later in … View more
Study type: Help
Observational study
Offered by: Help
MGH Harvard Center for Reproductive Medicine
Person responsible for the study: Help
Stephanie Seminara, MD, Scientific Director
Study contact: Help
Research Coordinator, Staff
Co-investigator: Help
Ravikumar Balasubramanian, PhD, MD, Lab Associate Director
Research contact policy: Help
Laboratory welcomes contact from patients/families interested in participating. Referrals from clinicians are also welcomed.
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Patients with hypogonadotropic hypogonadism and related phenotypes (microphallus, undescended testes, delayed/absent puberty, anosmia/absent sense of smell, amenorrhea, etc.) Exclusionary criteria: hypothyroidism, prolactinemia, hemochromatosis, hypergonadotropism including PCOS or Klinefelter syndrome.
Recruiting sites: Help
Participants may enroll remotely. Study materials including health questionnaire, smell test and tubes for blood samples are sent to study subjects. Boston-area residents, or visitors are welcome to participate in person and may contact us for an appointment.
Consent form: Help
Not provided
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 59
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
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Technical Information
Test Procedure: Help
Sanger sequencing of mutation site, familial/segregation studies are also available
Test Confirmation: Help
Sanger sequencing of mutation site, familial/segregation studies are also available
Test Comments: Help
This laboratory performs research only analyses; variants are reported to referring providers only. Detected variants must be verified at a CLIA approved lab prior to considering for medical management.
Additional Information

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