Achromatopsia
Research Genetic test
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GTR Test Accession: Help GTR000511508.7
OPHTHALMOLOGYNERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2023-10-23
Last annual review date for the lab: 2023-10-23 LinkOut
At a Glance
Achromatopsia 2; Achromatopsia; Achromatopsia 3; ...
Genes (6): Help
ATF6 (1q23.3), CNGA3 (2q11.2), CNGB3 (8q21.3), GNAT2 (1p13.3), PDE6C (10q23.33), ...
Analysis of known genes to describe mutation spectra and prevalences; …
Currently open
Clinical diagnosis of ACHM; familiy history suggestive of an autosomal …
Molecular Genetics - Sequence analysis of the entire coding region: Uni-directional Sanger sequencing
Study Description
Name: Help
Genes in Achromatopsia
Study short name: Help
ACHM genes
Protocol number: Help
116/2015BO2
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Analysis of known genes to describe mutation spectra and prevalences; Search for new genes applying linkage analysis/autozygosity mapping and exome sequencing; Search for CNVs and deep intronic mutations
Study type: Help
Not applicable
Offered by: Help
Molecular Genetics Laboratory
Person responsible for the study: Help
Susanne Kohl, PhD, Administrator
Study contact: Help
Susanne Kohl, PhD, Administrator
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Clinical diagnosis of ACHM; familiy history suggestive of an autosomal recessive mode of inheritance
Consent form: Help
Not provided
Conditions Help
Total conditions: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 6
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
Uni-directional Sanger sequencing
Applied Biosystems 3730 capillary sequencing instrument
Technical Information
Recommended fields not provided:
Additional Information

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