METHOD KEY

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

Intellectual Disability

CMA

Autism Spectrum Disorders

BBB Syndrome

Bardet-Biedl Syndrome

Brain Malformations

Coffin-Siris Syndrome

Cornelia de Lange Syndrome

Craniosynostosis

Developmental Delay

Epilepsy

Facial Dysostosis Related Disorders

Floating-Harbor Syndrome

Fragile X Syndrome

Fraser Syndrome

Glycosylphosphatidylinositol Biosynthesis Def

Intellectual Disability

Joubert and Meckel-Gruber Syndromes

Macrocephaly

Opitz G

Prader-Willi Syndrome

Premature Ovarian Failure (POF1)

Rett Syndrome

Rett Syndrome, Angelman Syndrome and Variant Syndromes

Rubinstein-Taybi Syndrome

Smith-Lemli-Opitz Syndrome

Thyroid Hormone Resistance

METHOD KEY

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