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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hyperglycinuria, 138500, Autosomal dominant (SLC6A20 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Hyperglycinuria, 138500, Autosomal dominant (SLC6A20 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Iminoglycinuria, digenic, 242600, Autosomal recessive, Digenic recessive (Iminoglycinuria) (SLC6A20 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Iminoglycinuria, digenic, 242600, Autosomal recessive, Digenic recessive (Iminoglycinuria) (SLC6A20 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

SLC6A20

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Renal calcifications (nephrocalcinosis) (NGS panel of 36 genes, including CNV analysis))

CGC Genetics Unilabs
Portugal
136
  • C Sequence analysis of the entire coding region

Hyperglycinuria

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
13
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • 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
24
  • C Sequence analysis of the entire coding region

Single gene testing SLC6A20

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

SLC6A20 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.