Clinical and research tests for 614193 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
[Transferrin serum level QTL2], 614193 (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
[Transferrin serum level QTL2], 614193 (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
HFE - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Iron Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	39	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Hemochromatosis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	11	6	D Deletion/duplication analysis
HFE Mutation Panel Baylor Genetics United States	6	1	T Targeted variant 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
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Porphyria Disorders NGS Panel Fulgent Genetics United States	15	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemochromatosis NGS Panel Fulgent Genetics United States	12	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atransferrinemia Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Hemochromatosis Asper Biogene Asper Biogene LLC Estonia	10	5	C Sequence analysis of the entire coding region
HFE Institute of Human Genetics Medical University Innsbruck Austria	6	1	S Mutation scanning of the entire coding region
HFE Single Gene Fulgent Genetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.