METHOD KEY

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

Skeletal and Dental

CMA

Achondroplasia

Adams-Oliver Syndrome

Agnathia-Otocephaly Complex

Alagille Syndrome

Amelogenesis Imperfecta

Axenfeld-Rieger Syndrome

Cleidocranial Dysplasia (CCD)

Coffin-Siris Syndrome

Congenital Limb Malformation

Cornelia de Lange Syndrome

Craniosynostosis

Dent Disease

Dyskeratosis Congenita

Ectodermal Dysplasia

Epiphyseal Dysplasia

Facial Dysostosis Related Disorders

Floating-Harbor Syndrome

Gorlin Syndrome

Greig Cephalopolysyndactyly Syndrome

Holt-Oram Syndrome (HOS)

Hypophosphatasia (HPP)

Kenny-Caffey Syndrome

Klippel-Feil Syndrome

Loeys-Dietz Syndrome

Meier-Gorlin Syndrome

Nail-Patella Syndrome

Nevoid Basal Cell Carcinoma Syndrome

Osteochondromas

Osteodysplasia

Osteogeneis Imperfecta

Paget Disease of Bone

Pallister-Hall Syndrome

Polydactyly

Popliteal Pterygium Syndrome

Rickets

Rubinstein-Taybi Syndrome

Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder

Shwachman-Diamond Syndrome

Skeletal Disorders and Joint Problems

Skeletal Dysplasia

Spondylocostal Dysostosis

Stickler Syndrome

Syndactyly

Tooth Agenesis

Townes-Brocks Syndrome

Treacher Collins Syndrome

Tricho-rhino-phalangeal Syndrome

Van der Woude Syndrome

METHOD KEY

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