METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other
Adams-Oliver Syndrome
Albinism
Aortopathies
Birt-Hogg-Dube Syndrome
Brittle Cornea Syndrome
Cholestasis
Collagenopathy
Comprehensive Connective Tissue
Dyskeratosis Congenita
Ectodermal Dysplasia
Ehlers-Danlos Syndrome
Epidermolysis Bullosa
Fraser Syndrome
Generalized Arterial Calcification of Infancy
Hermansky-Pudlak Syndrome
Hypopigmentation
Ichthyosis
Marfan Syndrome
Neurofibromatosis
Neutropenia
Popliteal Pterygium Syndrome
Porphyria
Pseudoxanthoma Elasticum
Skeletal Disorders and Joint Problems
Tuberous Sclerosis
Xeroderma Pigmentosum
METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other