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Results: 1 to 20 of 63

Tests names and labsConditionsGenes, analytes, and microbesMethods

Creatine Disorders Panel, S

Mayo Clinic Laboratories Mayo Clinic
United States
22
  • A Analyte

Creatine Disorders Panel, P

Mayo Clinic Laboratories Mayo Clinic
United States
22
  • A Analyte

Creatine Disorders Panel, U

Mayo Clinic Laboratories Mayo Clinic
United States
32
  • A Analyte

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

GATM - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Rhabdomyolysis and Metabolic Myopathy Panel

Invitae
United States
202128
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Invitae Renal Tubular Disorders Panel

Invitae
United States
6839
  • D Deletion/duplication analysis

Invitae Nuclear Mitochondrial Disorders Panel

Invitae
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cerebral creatine deficiency syndrome 3, 612718, Autosomal recessive; CCDS3 (L-Arginine:glycine amidinotransferase deficiency) (GATM 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

Cerebral creatine deficiency syndrome 3, 612718, Autosomal recessive; CCDS3 (L-Arginine:glycine amidinotransferase deficiency) (GATM 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 Mendelian Disorders with Psychiatric Symptoms Panel

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

Invitae Progressive Renal Disease Panel

Invitae
United States
310195
  • D Deletion/duplication analysis

Invitae Comprehensive Carrier Screen

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

Amino acid, urine, quantitative

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

Amino acid, plasma, quantitative

IU Genetic Testing Laboratories Indiana University School of Medicine
United States
834
  • A Analyte

Results: 1 to 20 of 63

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.