Dysmorph
Designed to assist in diagnosing dysmorphic syndromes and covers conditions like craniosynostosis, craniofacial disorders, cleft lip/palate, and many others. Additionally, it includes genes related to RASopathies, encompassing various syndromes such as neurofibromatosis, Noonan syndrome, and more.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- 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-RASopathies syndromes
- Seckel syndrome
- Skeletal dysplasia extended
- Stickler syndrome
- Tuberous sclerosis
- Waardenburg syndrome
Connective tissue and related disorders panel
Designed to assist in diagnosing dysmorphic syndromes and covers conditions like craniosynostosis, craniofacial disorders, cleft lip/palate, and many others. Additionally, it includes genes related to RASopathies, encompassing various syndromes such as neurofibromatosis, Noonan syndrome, and more.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Cutis laxa
- Ehlers-Danlos syndrome
- Familial thoracic aortic aneurysm and dissection
- Loeys-Dietz syndrome
- Marfan syndrome
- Osteogenesis imperfecta
- Stickler syndrome
