METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other
Skeletal disorders are a clinically and genetically heterogeneous group of diseases that impair skeletal or joint function. The diagnosis of these patients is based on clinical presentation, ultrasound/X-ray findings, and genetic testing. Our expert PhD team has skillfully constructed our skeletal and dental genetic test menu to offer a wide range of panels for skeletal and/or dental concerns.
Achondroplasia
Adams-Oliver Syndrome
Agnathia-Otocephaly Complex
Alagille Syndrome
Amelogenesis Imperfecta
Axenfeld-Rieger Syndrome
Bone Fragility
Cleidocranial Dysplasia (CCD)
Coffin-Siris Syndrome
Congenital Limb Malformation
Cornelia de Lange Syndrome
Craniosynostosis
Dent Disease
Dyskeratosis Congenita
Ectodermal Dysplasia
Epiphyseal Dysplasia
Facial Dysostosis Related Disorders
Floating-Harbor Syndrome
Gorlin Syndrome
Greig Cephalopolysyndactyly Syndrome
Holt-Oram Syndrome (HOS)
Hypophosphatasia (HPP)
Kenny-Caffey Syndrome
Klippel-Feil Syndrome
Loeys-Dietz Syndrome
Meier-Gorlin Syndrome
Nail-Patella Syndrome
Nevoid Basal Cell Carcinoma Syndrome
Osteochondromas
Osteodysplasia
Paget Disease of Bone
Pallister-Hall Syndrome
Polydactyly
Popliteal Pterygium Syndrome
Rickets
Rubinstein-Taybi Syndrome
Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder
Shwachman-Diamond Syndrome
Skeletal Disorders and Joint Problems
Skeletal Dysplasia
Spondylocostal Dysostosis
Stickler Syndrome
Syndactyly
Tooth Agenesis
Townes-Brocks Syndrome
Treacher Collins Syndrome
Tricho-rhino-phalangeal Syndrome
Van der Woude Syndrome
METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other