METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other
Ambiguous Genitalia
Androgen Insensitivity Syndrome
Bardet-Biedl Syndrome
Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES)
Ciliopathies
Combined Pituitary Hormone Deficiency
Cystic Fibrosis
Disorders of Sex Development
Female Infertility
Fragile X Syndrome
Fraser Syndrome
Galactosemia
Hypogonadism
Hypospadias
Joubert and Meckel-Gruber Syndromes
Male Infertility
Premature Ovarian Failure (POF)
Premature Ovarian Failure (POF1)
METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other