METHOD KEY

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

Connective Tissue and Skin

Our connective tissue and skin genetic test menu has been meticulously crafted by our expert PhD team and offers a wide range of genetic tests and panels related to dermatology, orthopedics and more. Accurate genetic testing is imperative for diagnostics and can help make informed treatment decisions.

CMA

Adams-Oliver Syndrome

Albinism

Aortopathies

Birt-Hogg-Dube Syndrome

Brittle Cornea Syndrome

Cholestasis

Collagenopathy

Connective Tissue Disorders

Dyskeratosis Congenita

Ectodermal Dysplasia

Ehlers-Danlos Syndrome

Epidermolysis Bullosa

Fraser Syndrome

Generalized Arterial Calcification of Infancy

Hermansky-Pudlak Syndrome

Ichthyosis

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