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Results: 1 to 20 of 117

Tests names and labsConditionsGenes, analytes, and microbesMethods

FG syndrome 4, 300422; FGS4 (CASK 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

FG syndrome 4, 300422; FGS4 (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

FG syndrome 4, 300422; FGS4 (CASK 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

FG syndrome 4, 300422; FGS4 (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Mental retardation, with or without nystagmus, 300422 (CASK 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

Mental retardation, with or without nystagmus, 300422 (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Mental retardation, with or without nystagmus, 300422 (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Mental retardation, with or without nystagmus, 300422 (CASK 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

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies

Mayo Clinic Laboratories Mayo Clinic
United States
3940
  • C Sequence analysis of the entire coding region

MLPA (CFH-CFHR5) a la carte

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
76
  • D Deletion/duplication analysis

Red Blood Cell Enzyme Panel, Next-Generation Sequencing

Mayo Clinic Laboratories Mayo Clinic
United States
1917
  • C Sequence analysis of the entire coding region

Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing

Mayo Clinic Laboratories Mayo Clinic
United States
91
  • C Sequence analysis of the entire coding region

G6PD Deficiency

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies

BloodGenetics
Spain
3336
  • C Sequence analysis of the entire coding region

Genetic Renal Panel v8

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
2117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HemeZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
10796
  • 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

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195205
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

G6PD - Sanger sequencing

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

Results: 1 to 20 of 117

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.