Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc.
United States | 185 | 145 | - D Deletion/duplication analysis
- I Microsatellite instability testing (MSI)
- X Mutation scanning of select exons
- T Targeted variant analysis
|
CYP21A2 Gene, Full Gene Analysis Mayo Clinic Laboratories Mayo Clinic
United States | 2 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Congenital Adrenal Hyperplasia due to 21-Hydroxylase deficiency Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile | 1 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
CentoMetabolic MOx Centogene AG - the Rare Disease Company
Germany | 195 | 221 | - A Analyte
- D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
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
|
CentoScreen Centogene AG - the Rare Disease Company
Germany | 316 | 314 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
CYP21A2 - MLPA Centogene AG - the Rare Disease Company
Germany | 1 | 1 | - D Deletion/duplication analysis
|
CYP21A2 - Sanger sequencing Centogene AG - the Rare Disease Company
Germany | 1 | 1 | - C Sequence analysis of the entire coding region
|
Carrier Screening Guidelines-Based Panel Ambry Genetics
United States | 199 | 164 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Carrier Screening Ashkenazi Jewish Panel Ambry Genetics
United States | 51 | 47 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Congenital Adrenal Hyperplasia (CAH) Panel Centogene AG - the Rare Disease Company
Germany | 12 | 12 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (CYP21A2 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
|
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (CYP21A2 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
|
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (CYP21A2 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
|
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (CYP21A2 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
|
Invitae Broad Carrier Screen without X-linked Disorders Invitae
United States | 195 | 98 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
