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

P2RY12
Platelet bleeding disorders NGS panel
Del Dup
NGS
P3H1
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, type VIII
Del Dup
NGS
P4HB
Cole-Carpenter syndrome 1
Del Dup
NGS
Cole-Carpenter syndrome NGS panel
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
PAFAH1B1
Lissencephaly and related disorders NGS panel
Del Dup
NGS
Lissencephaly core NGS panel
NGS
Del Dup
PAM16
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
PAPSS2
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
PARN
Dyskeratosis congenita NGS panel
Del Dup
NGS
PAX2
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
PAX3
Waardenburg syndrome NGS panel
Del Dup
NGS
PAX9
Oligodontia - Selective tooth agenesis NGS panel
NGS
Del Dup
PCNT
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
PCYT1A
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondylometaphyseal dysplasia with cone-rod dystrophy
NGS
Sanger
Del Dup
PDCD10
Cerebral cavernous malformations 3
Del Dup
NGS
Cerebral cavernous malformations NGS panel
Del Dup
NGS
Vascular malformations NGS panel
Del Dup
NGS
PDE6D
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
PDGFRB
Overgrowth syndrome NGS panel
NGS
Del Dup
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
PDK3
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel
NGS
Del Dup
PDSS2
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
PEX5
Chondrodysplasia punctata and related disorders NGS panel
Del Dup
NGS
PEX7
Chondrodysplasia punctata and related disorders NGS panel
Del Dup
NGS
Rhizomelic chondrodysplasia punctata type 1
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
Del Dup
NGS
PFN1
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
PHEX
Abnormal mineralization disorders NGS panel
NGS
Del Dup
Rickets, hypophosphatemic, X-linked dominant
Del Dup
NGS
PHGDH
Neu-Laxova syndrome 1
NGS
Del Dup
Neu-Laxova syndrome NGS panel
NGS
Del Dup
Phosphoglycerate dehydrogenase deficiency
Del Dup
NGS
PIBF1
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
PIEZO2
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Distal arthrogryposes NGS panel
Del Dup
NGS
PIGA
Overgrowth syndrome NGS panel
NGS
Del Dup
Simpson-Golabi-Behmel syndrome, PIGA related
Del Dup
NGS
Sanger
PIK3R2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel
NGS
Del Dup
PIP5K1C
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Lethal congenital contracture syndrome and related disorders NGS Panel
Del Dup
NGS
PKD1
Polycystic kidney disease and related disorders NGS panel
NGS
Del Dup
Polycystic liver disease NGS panel
NGS
Del Dup
PKD2
Polycystic kidney disease and related disorders NGS panel
NGS
Del Dup
Polycystic liver disease NGS panel
NGS
Del Dup
PKHD1
Nephronophthisis and related disorders NGS panel
Del Dup
NGS
Polycystic kidney disease and related disorders NGS panel
Del Dup
NGS
Polycystic liver disease NGS panel
Del Dup
NGS
PKP1
Epidermolysis bullosa NGS panel
NGS
Del Dup
PKP2
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
PLAU
Platelet bleeding disorders NGS panel
NGS
Del Dup
PLCB4
Auriculocondylar syndrome NGS panel
Del Dup
NGS
PLCE1
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
PLEC
Epidermolysis bullosa NGS panel
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
PLEKHG5
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
PLEKHM1
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis NGS panel
NGS
Del Dup
Osteopetrosis, autosomal recessive 6
NGS
Del Dup
PLOD1
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
Ehlers-Danlos syndrome, kyphoscoliotic type, 1
Del Dup
NGS
PLOD2
Bruck syndrome 2
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
PLS3
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, PLS3 related
Del Dup
NGS
PMP22
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
PNPLA1
Ichthyosis NGS panel
NGS
Del Dup
POLD1
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
POLH
Xeroderma pigmentosum NGS panel
Del Dup
NGS
POLR1A
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
POLR1C
Treacher Collins syndrome 3
Sanger
Del Dup
NGS
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
Treacher Collins syndrome core NGS panel
Del Dup
NGS
POLR1D
Treacher Collins syndrome 2
Sanger
Del Dup
NGS
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
Treacher Collins syndrome core NGS panel
Del Dup
NGS
POMGNT1
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Lissencephaly and related disorders NGS panel
NGS
Del Dup
POMGNT2
Lissencephaly and related disorders NGS panel
NGS
Del Dup
POMK
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
Lissencephaly and related disorders NGS panel
NGS
Del Dup
POMP
Ichthyosis NGS panel
Del Dup
NGS
POMT1
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
Lissencephaly and related disorders NGS panel
Del Dup
NGS
POMT2
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Lissencephaly and related disorders NGS panel
Del Dup
NGS
POR
Craniosynostosis NGS panel
NGS
Del Dup
PORCN
Focal dermal hypoplasia
Del Dup
NGS
POU1F1
Short stature with endocrinopathy NGS panel
NGS
Del Dup
PPIB
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, type IX
Sanger
Del Dup
NGS
PPP1CB
Noonan spectrum disorder NGS panel
NGS
Del Dup
PRDM5
Brittle cornea syndrome 2
Del Dup
NGS
Brittle cornea syndrome NGS panel
NGS
Del Dup
Connective tissue disorder NGS panel
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
Keratoconus and related disorders NGS panel
NGS
Del Dup
PRKACG
Platelet bleeding disorders NGS panel
NGS
Del Dup
Thrombocytopenia NGS Panel
Del Dup
NGS
PRKCSH
Polycystic liver disease NGS panel
Del Dup
NGS
PRKG1
Aortic aneurysm, familial thoracic 8
Del Dup
NGS
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
PROP1
Short stature with endocrinopathy NGS panel
NGS
Del Dup
PRPH2
Leber congenital amaurosis and related disorders NGS panel
NGS
Del Dup
PRPS1
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
PRX
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
PSAT1
Neu-Laxova syndrome 2
Del Dup
NGS
Neu-Laxova syndrome NGS panel
Del Dup
NGS
Phosphoserine aminotransferase deficiency
Del Dup
NGS
PTCH1
Basal cell nevus syndrome - PTCH1
NGS
Del Dup
Basal cell nevus syndrome NGS panel
NGS
Del Dup
PTCH2
Basal cell nevus syndrome - PTCH2
NGS
Del Dup
Basal cell nevus syndrome NGS panel
NGS
Del Dup
PTDSS1
Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
PTEN
Vascular malformations NGS panel
NGS
Del Dup
PTH1R
Chondrodysplasia, Blomstrand type
Del Dup
NGS
Eiken syndrome
NGS
Del Dup
Failure of tooth eruption, primary
NGS
Del Dup
Metaphyseal chondrodysplasia, Jansen type
NGS
Del Dup
Oligodontia - Selective tooth agenesis NGS panel
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
PTPN11
Noonan spectrum disorder NGS panel
Del Dup
NGS
Noonan syndrome core NGS panel
Del Dup
NGS
PTPRO
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
PYCR1
Cutis laxa NGS panel
NGS
Del Dup
Cutis laxa, autosomal recessive, type IIB & type IIIB
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
NGS
Del Dup
PYROXD1
Myofibrillar myopathy and related disorders NGS panel
NGS
Del Dup

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