Invitae Expanded Renal Disease Panel Invitae
United States | 693 | 388 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
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
|
CYP17A1 - 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
|
CentoIEM Panel Centogene AG - the Rare Disease Company
Germany | 669 | 688 | - 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
|
CentoICU Panel Centogene AG - the Rare Disease Company
Germany | 829 | 848 | - C Sequence analysis of the entire coding region
|
Invitae Disorders of Sex Development Panel Invitae
United States | 88 | 53 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (Congenital adrenal hyperplasia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
17,20-lyase deficiency, isolated, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
17,20-lyase deficiency, isolated, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
17-alpha-hydroxylase/17,20-lyase deficiency, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (CYP17A1 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 17-ALPHA-HYDROXYLASE DEFICIENCY (Congenital adrenal hyperplasia) (CYP17A1 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
|
17,20-lyase deficiency, isolated, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (CYP17A1 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
|
17-alpha-hydroxylase/17,20-lyase deficiency, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
17,20-lyase deficiency, isolated, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (CYP17A1 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
|
17-alpha-hydroxylase/17,20-lyase deficiency, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
17-alpha-hydroxylase/17,20-lyase deficiency, 202110, Autosomal recessive (Congenital adrenal hyperplasia) (CYP17A1 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
|
Invitae Comprehensive Carrier Screen Invitae
United States | 886 | 547 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
