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Results: 1 to 20 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

Porphyrins, F

Mayo Clinic Laboratories Mayo Clinic
United States
71
  • A Analyte

Protoporphyrins, Fractionation, WB

Mayo Clinic Laboratories Mayo Clinic
United States
22
  • A Analyte

Protoporphyrins, Fractionation, RBC

Mayo Clinic Laboratories Mayo Clinic
United States
22
  • A Analyte

Porphyrins Evaluation, WB

Mayo Clinic Laboratories Mayo Clinic
United States
23
  • A Analyte

Porphyrin Evaluation, RBC

Mayo Clinic Laboratories Mayo Clinic
United States
23
  • A Analyte

NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria

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

ALAS2

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

HemeZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
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

ALAS2 - 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 Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Cholestasis Panel

Invitae
United States
210134
  • 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 Hereditary Hemolytic Anemia Panel

Invitae
United States
7439
  • D Deletion/duplication analysis

Invitae Iron Related Disorders Panel

Invitae
United States
3927
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Dyserythropoietic Anemia (CDA) Panel

Invitae
United States
127
  • D Deletion/duplication analysis

Invitae Comprehensive Porphyrias Panel

Invitae
United States
1510
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
250155
  • C Sequence analysis of the entire coding region

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics, part of Exact Sciences
United States
292253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
267186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 45

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.