MVL Vision Panel Molecular Vision Laboratory United States | 1358 | 1028 | - C Sequence analysis of the entire coding region
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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
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HESX1 - 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
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CentoNeuro Panel Centogene AG - the Rare Disease Company Germany | 1886 | 1858 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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CentoNephro Panel Centogene AG - the Rare Disease Company Germany | 498 | 498 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoVision Panel Centogene AG - the Rare Disease Company Germany | 417 | 413 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany | 499 | 499 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany | 740 | 728 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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CentoICU Panel Centogene AG - the Rare Disease Company Germany | 829 | 848 | - C Sequence analysis of the entire coding region
|
Invitae Septo-optic Dysplasia Panel Invitae United States | 17 | 8 | - D Deletion/duplication analysis
|
Invitae Hypogonadotropic Hypogonadism Panel Invitae United States | 67 | 46 | - D Deletion/duplication analysis
|
Invitae Hypoglycemia Panel Invitae United States | 173 | 119 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 | - D Deletion/duplication analysis
|
Growth hormone deficiency with pituitary anomalies, 182230, Autosomal recessive, Autosomal dominant (Septo-optic dysplasia spectrum) (HESX1 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
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Growth hormone deficiency with pituitary anomalies, 182230, Autosomal recessive, Autosomal dominant (Septo-optic dysplasia spectrum) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - D Deletion/duplication analysis
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Pituitary hormone deficiency, combined, 5, 182230, Autosomal recessive, Autosomal dominant (Septo-optic dysplasia spectrum) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Pituitary hormone deficiency, combined, 5, 182230, Autosomal recessive, Autosomal dominant (Septo-optic dysplasia spectrum) (HESX1 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
|
Septooptic dysplasia, 182230, Autosomal recessive, Autosomal dominant (Septo-optic dysplasia spectrum) (HESX1 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
|
Septooptic dysplasia, 182230, Autosomal recessive, Autosomal dominant (Septo-optic dysplasia spectrum) (HESX1 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
|
Septooptic dysplasia, 182230, Autosomal recessive, Autosomal dominant (Septo-optic dysplasia spectrum) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - D Deletion/duplication analysis
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