Clinical and research tests for 242100 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Ichthyosis, congenital, autosomal recessive 2, 242100, Autosomal recessive; ARCI2 (Self-healing collodion baby) (ALOX12B 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 2, 242100, Autosomal recessive; ARCI2 (Self-healing collodion baby) (ALOX12B 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
ALOX12B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Ichthyosis Panel Labcorp Genetics (formerly Invitae) LabCorp 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
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	124	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
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ALOX12B 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
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	122	68	C Sequence analysis of the entire coding region
ALOX12B Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Ichthyosis, congenital, autosomal recessive: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	14	13	C Sequence analysis of the entire coding region
Ichthyosis NGS Panel Fulgent Genetics United States	98	43	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.