Congenital malformations (“birth defects”) remain a leading cause of infant mortality and childhood morbidity. We offer comprehensive and rapid testing options, including analysis of genome-wide copy number alterations.  Testing can provide your patients with a clear diagnosis of inherited malformation and intellectual disability syndromes.

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CentoDysmorph is designed to help physicians diagnose patients that suffer from a dysmorphic syndrome. The panel includes craniosynostosis, craniofacial disorders, cleft/lip palate, holoprosencephaly, Waardenburg syndrome, Hirschsprung disease, lissencephaly, and brain malformation disorders, among others.

No. of genes: 770
TAT: 25 days
Coverage: ≥99.0% ≥20x
Details: CNV analysis included
mtDNA analysis included

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Common syndromes and disorders covered
  • Bardet-Biedl syndrome
  • Cardiofaciocutaneous syndrome
  • Cerebral cavernous malformations
  • Ciliopathies
  • Cleft lip and palate
  • Coffin-Siris syndrome
  • Cornelia de Lange syndrome
  • Ciliopathic skeletal dysplasias
  • Craniosynostosis and craniofacial disorders
  • Heterotaxy syndrome
  • Hirschsprung disease
  • Holoprosencephaly
  • Klippel-Feil syndrome
  • Lissencephaly and brain malformation
  • Meckel syndrome
  • Metaphyseal dysplasia
  • Micro syndrome
  • Microphthalmia/anophthalmia/coloboma spectrum
  • Multiple epiphyseal dysplasia
  • Neurofibromatosis
  • Noonan syndrome
  • Seckel syndrome
  • Skeletal dysplasia extended
  • Stickler syndrome
  • Tuberous sclerosis
  • Waardenburg syndrome

Connective Tissue and Related Disorders Panel

Our connective tissue and related disorders panel provides a profound one-step evaluation of several genes to detect different disorders with similar phenotypes, such as Marfan Syndrome, Loeys-Dietz, cutis laxa, Ehlers-Danlos, Stickler syndrome, and Familial thoracic aortic aneurysm and dissection.

No. of genes: 76
TAT: 25 days
Coverage: ≥99.0% ≥20x
Details: CNV analysis included

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Common syndromes and disorders covered
  • Cutis laxa
  • Ehlers-Danlos syndrome
  • Familial thoracic aortic aneurysm and dissection
  • Loeys-Dietz syndrome
  • Marfan syndrome
  • Stickler syndrome

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CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

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