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Results: 1 to 20 of 67

Tests names and labsConditionsGenes, analytes, and microbesMethods

EEF2 Gene Spinocerebellar ataxia type 26, autosomal dominant NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

CPOX Gene Coproporphyria NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Distal Weakness Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peripheral Neuropathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Motor Neuropathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
826
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Acute Porphyria Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
34
  • D Deletion/duplication analysis
  • 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

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

CentoMito Comprehensive Panel

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

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Porphyria Comprehensive Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Porphyrias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
1510
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Harderoporphyria, 121300, Autosomal dominant (Hereditary coproporphyria) (Prenatal) (MLPA)

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

Harderoporphyria, 121300, Autosomal dominant (Hereditary coproporphyria) (CPOX 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

Harderoporphyria, 121300, Autosomal dominant (Hereditary coproporphyria) (MLPA)

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

Harderoporphyria, 121300, Autosomal dominant (Hereditary coproporphyria) (CPOX 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

Coproporphyria, 121300, Autosomal dominant; HCP (Hereditary coproporphyria) (CPOX 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

Coproporphyria, 121300, Autosomal dominant; HCP (Hereditary coproporphyria) (MLPA)

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

Results: 1 to 20 of 67

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.