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Results: 1 to 20 of 50

Tests names and labsConditionsGenes, analytes, and microbesMethods

Porphyria cutanea tarda, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (UROD 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

Porphyria cutanea tarda, susceptibility to, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (MLPA)

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

Porphyria cutanea tarda, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (MLPA)

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

Porphyria cutanea tarda, susceptibility to, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (HFE 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

Porphyria, hepatoerythropoietic, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (Prenatal) (MLPA)

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

Porphyria cutanea tarda, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (UROD 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

Porphyria cutanea tarda, susceptibility to, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (HFE 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

Porphyria cutanea tarda, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (Prenatal) (MLPA)

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

Porphyria cutanea tarda, susceptibility to, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (Prenatal) (MLPA)

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

Porphyria, hepatoerythropoietic, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (UROD 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

Porphyria, hepatoerythropoietic, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (UROD 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

Porphyria, hepatoerythropoietic, 176100, Autosomal dominant (Familial porphyria cutanea tarda) (MLPA)

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

ENG

Department of Clinical Genetics Odense University Hospital
Denmark
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • 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

UROD - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HFE - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
61
  • 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

CentoSkin Panel

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

Invitae Iron Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3927
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 50

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.