Clinical and research tests for 153201 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Results: 1 to 16 of 16

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC36A2 Labcorp Genetics (formerly Invitae) LabCorp United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Iminoglycinuria, digenic, 242600, Autosomal recessive, Digenic recessive (Iminoglycinuria) (SLC36A2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Iminoglycinuria, digenic, 242600, Autosomal recessive, Digenic recessive (Iminoglycinuria) (SLC36A2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Hyperglycinuria, 138500, Autosomal dominant (SLC36A2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Hyperglycinuria, 138500, Autosomal dominant (SLC36A2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Genomic Unity® Renal Disorders Analysis Variantyx, Inc. United States	1	425	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
SLC36A2 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Renal calcifications (nephrocalcinosis) (NGS panel of 36 genes, including CNV analysis)) CGC Genetics Unilabs Portugal	1	36	C Sequence analysis of the entire coding region
Hyperglycinuria Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	3	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
IMINOGLYCINURIA/ HYPERGLICINURIA Laboratorio de Genetica Clinica SL Spain	2	4	C Sequence analysis of the entire coding region
Single gene testing SLC36A2 CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region
SLC36A2 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5130	4674	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.