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Results: 41 to 60 of 81

Tests names and labsConditionsGenes, analytes, and microbesMethods

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystinuria Panel

Blueprint Genetics
Finland
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephrology Endocrinology and Electrolytes - panels

MGZ Medical Genetics Center
Germany
5117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Tubulopathy and Nephrolithiasis Panel

Genetic Services Laboratory University of Chicago
United States
1275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51304674
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystinuria

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SLC3A1 Gene Cystinuria NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

SLC7A9 Gene Cystinuria NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

SLC3A1 - MLPA

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis

SLC3A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SLC7A9 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (SLC7A9 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

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (SLC7A9 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

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cystinuria, 220100, Autosomal recessive, Autosomal dominant (Cystinuria) (SLC3A1 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

Results: 41 to 60 of 81

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.