Clinical and research tests for C0162532 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 68

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Porphyria variegata, 176200, Autosomal dominant (Porphyria variegata) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Porphyria variegata, 176200, Autosomal dominant (Porphyria variegata) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Porphyria variegata, susceptibility to, 176200, Autosomal dominant (Porphyria variegata) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Porphyria variegata, susceptibility to, 176200, Autosomal dominant (Porphyria variegata) (HFE gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Porphyria variegata, susceptibility to, 176200, Autosomal dominant (Porphyria variegata) (HFE gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Porphyria variegata, susceptibility to, 176200, Autosomal dominant (Porphyria variegata) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Invitae United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Chronic/Cutaneous Porphyria Panel PreventionGenetics, part of Exact Sciences United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Porphyria Panel PreventionGenetics, part of Exact Sciences United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Acute/Neurovisceral Porphyria Panel PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Variegate Porphyria via the PPOX Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Hemochromatosis Panel Invitae United States	11	6	D Deletion/duplication analysis
HFE Mutation Panel Baylor Genetics United States	6	1	T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Hereditary hemochromatosis panel. Panel NGS genes: HAMP, HFE, HJV, SLC40A1, TFR2. Genologica Medica Spain	9	4	C Sequence analysis of the entire coding region
Porphyria panel. 9-gene NGS panel. Genologica Medica Spain	13	9	C Sequence analysis of the entire coding region
Porphyria Disorders (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	4	10	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 68

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.