Molecular Genetics Alstrom syndrome (ALMS1) gene analysis-NGS
Also Known As
ALMS1 Gene NGS Analysis, Alström Syndrome Genetic Test, Cone-Rod Dystrophy with Obesity and Diabetes Gene Test, ALMS1 Mutation Analysis, Bardet-Biedl-... Read more
Test Parameters Included
ALMS1 Gene Sequence Analysis by Next-Generation Sequencing (NGS) - detection of pathogenic variantsPathologist Molecular Genetics Remark - correlated ... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
No, a fasting state is not required for a molecular genetics test to diagnose Alström syndrome (ALMS1) gene mutations; a simple blood sample is suffic... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What does this test detect?It analyzes the ALMS1 gene for mutations causing Alström syndrome, a rare autosomal recessive disorder characterized by chi... Read more
Test Description
Test Code
MOG235
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