Clinical and research tests for C4551511 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First < Prev

Page 2 of 3

Results: 21 to 40 of 49

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Comprehensive Porphyrias Panel Invitae United States	15	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	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	267	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Anemia, sideroblastic, 1, 300751, X-linked recessive; SIDBA1 (X-linked sideroblastic anemia) (ALAS2 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
Anemia, sideroblastic, 1, 300751, X-linked recessive; SIDBA1 (X-linked sideroblastic anemia) (ALAS2 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
WES iron disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	20	46	E Sequence analysis of select exons
panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, SLC25A38, STEAP3, ALAS2, PUS1, YARS2) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	8	8	C Sequence analysis of the entire coding region
ALAS2 - X-linked sideroblastic anemia Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Invitae Bone Marrow Failure Syndromes Panel Invitae United States	138	85	D Deletion/duplication analysis
Congenital Dyserythropoietic Anemia Panel PreventionGenetics, part of Exact Sciences United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Porphyria panel. 9-gene NGS panel. Genologica Medica Spain	13	9	C Sequence analysis of the entire coding region
ALAS2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
Anemia, Sideroblastic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	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
Congenital Sideroblastic Anemia NGS Panel Fulgent Genetics United States	24	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First < Prev

Page 2 of 3

Results: 21 to 40 of 49

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.