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Results: 1 to 20 of 36

Tests names and labsConditionsGenes, analytes, and microbesMethods

Porphyrins, F

Mayo Clinic Laboratories Mayo Clinic
United States
71
  • A Analyte

Uroporphyrinogen III Synthase, RBC

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

Porphyrins, QN, Random, U

Mayo Clinic Laboratories Mayo Clinic
United States
53
  • A Analyte

NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria

BloodGenetics
Spain
34
  • C Sequence analysis of the entire coding region

UROS

Department of Clinical Genetics Odense University Hospital
Denmark
11
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • 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

NGS Panel for Congenital Erythropoietic Protoporphyria and Congenital erytropoietic Porphyria.

BloodGenetics
Spain
34
  • 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

UROS - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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 Comprehensive Porphyrias Panel

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

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Porphyria, congenital erythropoietic, 263700, Autosomal recessive (Congenital erythropoietic porphyria) (MLPA)

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

Porphyria, congenital erythropoietic, 263700, Autosomal recessive (Congenital erythropoietic porphyria) (Prenatal) (MLPA)

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

Porphyria, congenital erythropoietic, 263700, Autosomal recessive (Congenital erythropoietic porphyria) (UROS 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, congenital erythropoietic, 263700, Autosomal recessive (Congenital erythropoietic porphyria) (UROS 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

Labcorp Genetics (formerly Invitae) LabCorp
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Chronic/Cutaneous Porphyria Panel

PreventionGenetics, part of Exact Sciences
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 36

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.