Browse CTGT's catalogue of connective tissue tests, including NGS panels, by gene.

FAH
Abnormal mineralization disorders NGS panel
Del Dup
NGS
FAM111A
Gracile bone dysplasia
Del Dup
NGS
Kenny-Caffey syndrome NGS panel
NGS
Del Dup
Kenny-Caffey syndrome, type 2
Del Dup
NGS
FAM20A
Amelogenesis imperfecta and related disorders NGS panel
NGS
Del Dup
Nephrolithiasis and related disorders NGS panel
NGS
Del Dup
FAM20C
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis NGS panel
NGS
Del Dup
FAM83H
Amelogenesis imperfecta and related disorders NGS panel
NGS
Del Dup
FAN1
Nephronophthisis and related disorders NGS panel
NGS
Del Dup
FAR1
Chondrodysplasia punctata and related disorders NGS panel
Del Dup
NGS
FBLN5
Cutis laxa NGS panel
NGS
Del Dup
Cutis laxa, autosomal dominant 2 & autosomal recessive, type IA
NGS
Del Dup
FBN1
Acromicric dysplasia
Sanger
Connective tissue disorder NGS panel
NGS
Del Dup
Ectopia lentis NGS panel
Del Dup
NGS
Ectopia lentis, isolated, autosomal dominant
NGS
Del Dup
Fibrillinopathy NGS panel
NGS
Del Dup
Geleophysic dysplasia 2
Sanger
Marfan syndrome and Loeys-Dietz syndrome core NGS panel
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome NGS panel
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
NGS
Del Dup
Marfan syndrome, type I
Del Dup
NGS
Marfan syndrome, type I / II NGS panel
Del Dup
NGS
Overgrowth syndrome NGS panel
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
Stiff skin syndrome
Del Dup
NGS
Weill-Marchesani syndrome 2
Del Dup
NGS
Weill-Marchesani syndrome NGS panel
Del Dup
NGS
FBN2
Congenital contractural arachnodactyly
NGS
Del Dup
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Connective tissue disorder NGS panel
Del Dup
NGS
Distal arthrogryposes NGS panel
Del Dup
NGS
Fibrillinopathy NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
FBXO38
Distal hereditary motor neuropathy and related disorders NGS panel
NGS
Del Dup
FERMT1
Epidermolysis bullosa NGS panel
Del Dup
NGS
FERMT3
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis NGS panel
Del Dup
NGS
FGD4
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
FGF12
Brugada syndrome and related disorders NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
Del Dup
NGS
FGF23
Abnormal mineralization disorders NGS panel
NGS
Del Dup
Hyperphosphatemic familial tumoral calcinosis - FGF23
Del Dup
NGS
Sanger
Hyperphosphatemic familial tumoral calcinosis NGS panel
Del Dup
NGS
Rickets, hypophosphatemic, autosomal dominant
Del Dup
NGS
Sanger
FGFR1
Craniosynostosis core NGS panel
Del Dup
NGS
Craniosynostosis NGS panel
Del Dup
NGS
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel
Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
Sanger
Pfeiffer syndrome
Sanger
FGFR2
Apert syndrome
Sanger
Beare-Stevenson cutis gyrata syndrome
Sanger
Bent bone dysplasia syndrome
NGS
Del Dup
Craniosynostosis core NGS panel
NGS
Del Dup
Craniosynostosis NGS panel
NGS
Del Dup
Crouzon syndrome
Sanger
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel
Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
Sanger
FGFR2 related craniosynostosis
Del Dup
NGS
Jackson-Weiss syndrome
Sanger
Pfeiffer syndrome
Sanger
FGFR3
Achondroplasia / Hypochondroplasia
Del Dup
NGS
Sanger
Camptodactyly, tall stature, and hearing loss syndrome
NGS
Del Dup
Craniosynostosis core NGS panel
NGS
Del Dup
Craniosynostosis NGS panel
Del Dup
NGS
Crouzon syndrome with acanthosis nigricans
Sanger
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel
Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
Sanger
Muenke syndrome
Sanger
Saethre-Chotzen syndrome
Del Dup
NGS
Sanger
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia core NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Thanatophoric dysplasia, type I / II
Del Dup
NGS
Sanger
FHL1
Distal Myopathy NGS panel
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
Myofibrillar myopathy and related disorders NGS panel
NGS
Del Dup
FIG4
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
FKBP10
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
Osteogenesis imperfecta, type XI
NGS
Sanger
Del Dup
FKBP14
Connective tissue disorder NGS panel
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive
Del Dup
NGS
FKRP
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
Lissencephaly and related disorders NGS panel
Del Dup
NGS
FKTN
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Lissencephaly and related disorders NGS panel
Del Dup
NGS
FLCN
Birt-Hogg-Dube syndrome
Del Dup
NGS
Connective tissue disorder NGS panel
NGS
Del Dup
Pneumothorax, primary spontaneous
Del Dup
NGS
FLG
Ichthyosis NGS panel
Del Dup
NGS
FLG2
Ichthyosis NGS panel
NGS
Del Dup
Peeling skin syndrome NGS panel
NGS
Del Dup
FLI1
Thrombocytopenia NGS Panel
Del Dup
NGS
FLNA
Cardiac valvular dysplasia, X-linked
Del Dup
NGS
Connective tissue disorder NGS panel
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Frontometaphyseal dysplasia
NGS
Del Dup
Frontometaphyseal dysplasia NGS panel
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
Melnick-Needles syndrome
NGS
Del Dup
Otopalatodigital syndrome, type I / II
NGS
Del Dup
Periventricular nodular heterotopia 1
NGS
Del Dup
Terminal osseous dysplasia
Del Dup
NGS
FLNB
Atelosteogenesis, type I / III
Del Dup
NGS
Sanger
Boomerang dysplasia
Sanger
Del Dup
NGS
Desbuquois dysplasia and related disorders NGS panel
NGS
Del Dup
Larsen syndrome, autosomal dominant
NGS
Sanger
Del Dup
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondylocarpotarsal synostosis syndrome
NGS
Del Dup
FLNC
Distal Myopathy NGS panel
NGS
Del Dup
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Myofibrillar myopathy and related disorders NGS panel
NGS
Del Dup
FLVCR2
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Del Dup
NGS
FN1
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
FOXE1
Cleft lip, cleft palate and related disorders NGS panel
NGS
Del Dup
FOXE3
Connective tissue disorder NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
FOXF1
Pulmonary hypertension NGS panel
NGS
Del Dup
Vascular malformations NGS panel
NGS
Del Dup
FREM1
Craniosynostosis NGS panel
NGS
Del Dup
FUS
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
FYB
Thrombocytopenia NGS Panel
Del Dup
NGS
FZD2
Omodysplasia NGS panel
Del Dup
NGS
Robinow syndrome NGS panel
Del Dup
NGS
FZD4
Exudative vitreoretinopathy 1
Sanger
Del Dup
NGS
Exudative vitreoretinopathy NGS panel
Del Dup
NGS
Vitreoretinopathy NGS panel
Del Dup
NGS

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