U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

ATIC - 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

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

AICA-ribosiduria due to ATIC deficiency, 608688, Autosomal recessive (AICA-ribosiduria) (ATIC 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

AICA-ribosiduria due to ATIC deficiency, 608688, Autosomal recessive (AICA-ribosiduria) (ATIC 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

Invitae Purine Metabolism Disorders Panel

Invitae
United States
2618
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

AICA-ribosiduria due to ATIC deficiency: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Childhood Epilepsy NGS Panel

Fulgent Genetics
United States
354209
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neonatal Epilepsy NGS Panel

Fulgent Genetics
United States
509275
  • D Deletion/duplication analysis
  • 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

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ATIC Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • 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.