Back
  1. Dysmorphology

Dysmorphology

Our genetic testing and medical expertise provide the most effective combination to understand the underlying causes of malformation and intellectual disability syndromes. Congenital malformations (“birth defects”) remain a leading cause of infant mortality and childhood morbidity. By offering comprehensive and rapid testing options including genome-wide copy number alterations, you can provide your patients with clear results for inherited malformation syndromes.

CentoDysmorph

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:556
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

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

Ciliopathies panel

Our ciliopathies panel includes a group of disorders causing cilia dysfunction, including Joubert Syndrome, Bardet- Biedl, COACH syndrome, primary ciliary dyskinesia, Meckel syndrome, skeletal dysplasia, situs inversus, and heterotaxy, among others. If polycystic kidney disease is suspected, CentoNephro Plus is recommended, which includes PKD1 analysis.

No. of genes:194
TAT:25 days
Coverage:≥99.5% ≥20x
Details:

CNV analysis included

Common syndromes and disorders covered

Bardet-Biedl syndrome
Heterotaxy syndrome
Joubert syndrome
Primary ciliary dyskinesia
Skeletal dysplasia
Skeletal ciliopathy

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: 72
TAT: 25 days
Coverage: ≥99.5% ≥20x
Details:CNV analysis included

Common syndromes and disorders covered

Cutis laxa
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and dissection
Loeys-Dietz syndrome
Marfan syndrome
Stickler syndrome

Noonan - RASopathies panel

The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components or regulators of the RAS/mitogen-activated protein kinase (MAPK) pathway. Our Noonan - RASopathies panel is intended for patients with clinical symptoms of RASopathies and includes genes related to neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation–arteriovenous malformation syndrome, Costello syndrome, Cardio-Facio- Cutaneous syndrome, and Legius syndrome, among others. Tuberous sclerosis and McCune-Albright syndrome are included for differential diagnosis.

No. of genes: 22
TAT: 25 days
Coverage: ≥99.5% ≥20x
Details:CNV analysis included

Common syndromes and disorders covered

Neurofibromatosis
Noonan syndrome

Cardiofaciocutaneous syndrome
Tuberous sclerosis

Get in touch with our Partner Support

Our consultation service is available in several languages.

+49 (0) 381 - 80113 416

Mon. – Fri. 7 a.m.– 8 p.m. CEST • Sat. 9 a.m. – 5 p.m. CEST

For our US Partners:

+1 (617) 580-2102

Mon. – Fri. 9 a.m. – 5:30 p.m. EST