Infertility Panel Centogene AG - the Rare Disease Company
Germany | 243 | 238 | - D Deletion/duplication analysis
- E Sequence analysis of select exons
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
AKR1C4 - 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
|
CentoDysmorph Panel Centogene AG - the Rare Disease Company
Germany | 740 | 728 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Cholestasis Panel Labcorp Genetics (formerly Invitae) LabCorp
United States | 210 | 134 | - D Deletion/duplication analysis
|
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, modifier of, 614279, Autosomal recessive (46,XY disorder of sex development due to testicular 17,20-desmolase deficiency) (AKR1C4 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, modifier of, 614279, Autosomal recessive (46,XY disorder of sex development due to testicular 17,20-desmolase deficiency) (AKR1C4 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
|
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
|
Ambiguous Genitalia Panel PreventionGenetics, part of Exact Sciences
United States | 128 | 85 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Differences of Sex Development (DSD) Panel PreventionGenetics, part of Exact Sciences
United States | 149 | 158 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics, part of Exact Sciences
United States | 223 | 238 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Male Infertility Panel PreventionGenetics, part of Exact Sciences
United States | 128 | 139 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Female Infertility Panel PreventionGenetics, part of Exact Sciences
United States | 96 | 105 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
qGenEx Sex development disorders Quantitative Genomic Medicine Laboratories, SL
Spain | 45 | 48 | - 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
|
46,XY Sex Reversal NGS Panel Fulgent Genetics
United States | 16 | 9 | - 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
|
