METHOD KEY

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

Connective Tissue and Skin

CMA

Albinism

Aortopathies

Arthrogryposis

Birt-Hogg-Dube Syndrome

Brittle Cornea Syndrome

Cholestasis

Collagenopathy

Comprehensive Connective Tissue

Dyskeratosis Congenita

Ectodermal Dysplasia

Ehlers-Danlos Syndrome

Epidermolysis Bullosa

Focal Dermal Hypoplasia

Fraser Syndrome

Generalized Arterial Calcification of Infancy

Hermansky-Pudlak Syndrome

Hypopigmentation

Ichthyosis

Lipodystrophy

Marfan Syndrome

Neurofibromatosis

Neutropenia

Popliteal Pterygium Syndrome

Porphyria

Pseudoxanthoma Elasticum

Skeletal Disorders and Joint Problems

Tuberous Sclerosis

Xeroderma Pigmentosum

METHOD KEY

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