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Results: 1 to 20 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HPD - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • 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

Tyrosinemia, type III, 276710, Autosomal recessive; TYRSN3 (Tyrosinemia type 3) (HPD 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

Tyrosinemia, type III, 276710, Autosomal recessive; TYRSN3 (Tyrosinemia type 3) (HPD 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

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tyrosinemia Panel

PreventionGenetics, part of Exact Sciences
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Tyrosinemia Type III and Hawkinsinuria via the HPD Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HPD Sequence Analysis

Baylor Genetics
United States
21
  • C Sequence analysis of the entire coding region

HPD Prenatal Sequence Analysis

Baylor Genetics
United States
21
  • E Sequence analysis of select exons

HPD Familial Mutation/Variant Analysis

Baylor Genetics
United States
21
  • E Sequence analysis of select exons

Amino Acid Analysis - Plasma

Baylor Genetics
United States
2526
  • A Analyte

Organic Acid Screen - Urine

Baylor Genetics
United States
1945
  • A Analyte

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

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.