Clinical and research tests for C1832550 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ABCA12 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Ichthyosis Panel Invitae United States	77	45	D Deletion/duplication analysis
Ichthyosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ichthyosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	28	C Sequence analysis of the entire coding region T Targeted variant analysis
Ichthyosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ichthyosis, congenital, autosomal recessive 4A, 601277, Autosomal recessive; ARCI4A (Lamellar ichthyosis) (ABCA12 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
Ichthyosis, congenital, autosomal recessive 4A, 601277, Autosomal recessive; ARCI4A (Lamellar ichthyosis) (ABCA12 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
Custom Panel (Multiple Malformations/Anomalies Syndromes) PreventionGenetics, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	125	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ichthyosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ichthyosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	28	C Sequence analysis of the entire coding region T Targeted variant analysis
Ichthyosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Ichthyosis and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ichthyosis panel. 31-gene NGS panel. Genologica Medica Spain	58	31	C Sequence analysis of the entire coding region
Dermatological. Full panel Genologica Medica Spain	123	68	C Sequence analysis of the entire coding region
Ichthyosis Asper Biogene Asper Biogene LLC Estonia	67	47	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.