METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other

Reproductive and Infertility Genetics

CMA

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

Fetal Akinesia Deformation Sequence

Fetal and Neonatal Loss

Fragile X Syndrome

Fraser Syndrome

Galactosemia

Hypogonadism

Hypospadias

Joubert and Meckel-Gruber Syndromes

Lethal Multiple Pterygium Syndrome

Male Infertility

Pituitary Adenoma

Premature Ovarian Failure (POF)

Premature Ovarian Failure (POF1)

METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other