METHOD KEY

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

Multiple Malformations/Anomalies

CMA

Aarskog-Scott Syndrome (Faciogenital Dysplasia)

Achondroplasia

Agnathia-Otocephaly Complex

Alagille Syndrome

Anophthalmia

Arthrogryposis

Axenfeld-Rieger Syndrome

BBB Syndrome

Bardet-Biedl Syndrome

Brain Malformations

CHARGE Syndrome

Chromosomal Instability Syndromes

Ciliopathies

Cleft Lip

Cleidocranial Dysplasia (CCD)

Coffin-Siris Syndrome

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT)

Congenital Disorders of Glycosylation

Congenital Limb Malformation

Cornelia de Lange Syndrome

Craniosynostosis

Ectodermal Dysplasia

Fetal Akinesia Deformation Sequence (FADS)/Le

Fibrosis of Extraocular Muscles

Floating-Harbor Syndrome

Fragile X Syndrome

Fraser Syndrome

Glycosylphosphatidylinositol Biosynthesis Def

Gorlin Syndrome

Heterotaxy

Holoprosencephaly

Joubert and Meckel-Gruber Syndromes

Kabuki Syndrome

Kallmann Syndrome

Klippel-Feil Syndrome

Metabolism of Cobalamin, Folate and Homocysteine

Microcephaly

Microphthalmia

Myofibromatosis

Neonatal and Fetal Concerns

Nevoid Basal Cell Carcinoma Syndrome

Opitz G

Overgrowth Syndrome

Polydactyly

Premature Ovarian Failure (POF1)

Rasopathies

Rubinstein-Taybi Syndrome

Skeletal Disorders and Joint Problems

Skeletal Dysplasia

Smith-Lemli-Opitz Syndrome

Sterol Disorders

Stickler Syndrome

Strabismus Syndrome

Syndactyly

Townes-Brocks Syndrome

Treacher Collins Syndrome

Tricho-rhino-phalangeal Syndrome

VACTERL Association Disorders

Van der Woude Syndrome

METHOD KEY

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