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Results: 21 to 40 of 120

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hypoglycemia Panel - Expanded

PreventionGenetics, part of Exact Sciences
United States
131115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Tyrosinemia, type I, 276700, Autosomal recessive; TYRSN1 (Tyrosinemia type 1) (FAH 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 I, 276700, Autosomal recessive; TYRSN1 (Tyrosinemia type 1) (FAH 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 Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hypophosphatemia Panel

Invitae
United States
2317
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen without X-linked Disorders

Invitae
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Invitae
United States
224112
  • D Deletion/duplication analysis
  • 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 Type I

Myriad Genetics, Inc.
United States
11
  • 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

Amino acid, urine, quantitative

IU Genetic Testing Laboratories Indiana University School of Medicine
United States
1141
  • A Analyte

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Invitae Elevated Methionine Panel

Invitae
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Invitae Metabolic Newborn Screening Confirmation Panel

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

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Invitae
United States
12065
  • D Deletion/duplication analysis

FAH Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

FAH Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FAH Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

Results: 21 to 40 of 120

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.