Clinical and research tests for AKR1C2 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Obesity, hyperphagia, and developmental delay (46,XY disorder of sex development due to testicular 17,20-desmolase deficiency) (AKR1C2 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
Obesity, hyperphagia, and developmental delay (46,XY disorder of sex development due to testicular 17,20-desmolase deficiency) (AKR1C2 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
46,XY sex reversal 8, 614279, Autosomal recessive; SRXY8 (46,XY disorder of sex development due to testicular 17,20-desmolase deficiency) (AKR1C2 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
46,XY sex reversal 8, 614279, Autosomal recessive; SRXY8 (46,XY disorder of sex development due to testicular 17,20-desmolase deficiency) (AKR1C2 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
qGenEx Sex development disorders Quantitative Genomic Medicine Laboratories, SL Spain	45	48	C Sequence analysis of the entire coding region
Diseases of sexual development (WES based NGS panel of 46 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	46	C Sequence analysis of the entire coding region
Deletion-Duplication analysis of Multiple Genes GeneDx United States	1	20	D Deletion/duplication analysis
Custom XomeDx Slice – Differences of Sex Development (Proband Only) GeneDx United States	21	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
46,XY sex reversal: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	11	10	C Sequence analysis of the entire coding region
Developmental dysplasia of the hip: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Nonsyndromic disorders of sexual development: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	17	12	C Sequence analysis of the entire coding region
Abnormal/Ambiguous Genitalia Panel Genetic Services Laboratory University of Chicago United States	81	92	D Deletion/duplication analysis C Sequence analysis of the entire coding region
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Panel Genetic Services Laboratory University of Chicago United States	27	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AKR1C2 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Disorders of Sex Development Genetics Laboratory University of Oklahoma Health Sciences Center United States	1	88	C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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