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Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

Xanthinuria, type II, 603592, Autosomal recessive; XAN2 (Hereditary xanthinuria) (MOCOS 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

Xanthinuria, type II, 603592, Autosomal recessive; XAN2 (Hereditary xanthinuria) (MOCOS 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

Prenatal Exome Sequencing, Trio Analysis

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • C Sequence analysis of the entire coding region

Renal Stone/Electrolyte Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
8271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Nephrolithiasis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6640
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Xanthinuria Type II via the MOCOS Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Purine Metabolism Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
2618
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Xanthinuria type II (sequence analysis of MOCOS gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Nephrolithiasis panel. 35-gene NGS panel.

Genologica Medica
Spain
6035
  • C Sequence analysis of the entire coding region

Xanthinuria: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Purine and Pyrimidine Metabolism Disorders Panel

Blueprint Genetics
Finland
1521
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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.