Clinical and research tests for 608331 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Limb-girdle muscular dystrophy type 1E (LGMD1E, sequence analysis of DNAJB6 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
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	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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