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

Acrofacial Dysostosis, Nagar Type

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 Disorder Of Glycosylation

Congenital Limb Malformation

Cornelia de Lange Syndrome

Craniosynostosis

Ectodermal Dysplasia

Facial Dysostosis Related Disorders

Fetal Akinesia Deformation Sequence

Fetal and Neonatal Loss

Fibrosis of Extraocular Muscles

Floating-Harbor Syndrome

Fragile X Syndrome

Fraser Syndrome

Gorlin Syndrome

Heterotaxy

Holoprosencephaly

Homocystinuria

Joubert and Meckel-Gruber Syndromes

Kabuki Syndrome

Kallmann Syndrome

Lethal Multiple Pterygium Syndrome

Lissencephaly

Metabolism of Cobalamin, Folate and Homocysteine

Microcephaly

Microphthalmia

Mowat-Wilson Syndrome

Myofibromatosis

Neonatal Crisis/Illness

Nevoid Basal Cell Carcinoma Syndrome

Opitz G

Overgrowth Syndrome

Premature Ovarian Failure (POF1)

Rasopathies

Rubinstein-Taybi Syndrome

Simpson-Golabi-Behmel Syndrome

Skeletal Disorders and Joint Problems

Skeletal Dysplasia

Smith-Lemli-Opitz Syndrome

Sotos Syndrome

Stickler Syndrome

Strabismus Syndrome

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