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
NGS
Del Dup
Cole-Carpenter syndrome NGS panel
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive
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
NGS
Del Dup
PCYT1A
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Spondylometaphyseal dysplasia with cone-rod dystrophy
NGS
Sanger
Del Dup
PDCD10
Cerebral cavernous malformations 3
NGS
Del Dup
Cerebral cavernous malformations NGS panel
Del Dup
NGS
Vascular malformations NGS panel
Del Dup
NGS
PDE6D
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
PDGFRB
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
PDK3
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
PDSS2
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
PEX5
Chondrodysplasia punctata and related disorders NGS panel
NGS
Del Dup
PEX7
Chondrodysplasia punctata and related disorders NGS panel
NGS
Del Dup
Rhizomelic chondrodysplasia punctata type 1
NGS
Sanger
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia extended NGS panel
Del Dup
NGS
PFN1
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
PHEX
Abnormal mineralization disorders NGS panel
Del Dup
NGS
Rickets, hypophosphatemic, X-linked dominant
Del Dup
NGS
PHGDH
Neu-Laxova syndrome 1
Del Dup
NGS
Neu-Laxova syndrome NGS panel
Del Dup
NGS
Phosphoglycerate dehydrogenase deficiency
NGS
Del Dup
PIEZO2
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
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
PIP5K1C
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Lethal congenital contracture syndrome and related disorders NGS Panel
NGS
Del Dup
PKD1
Polycystic kidney disease and related disorders NGS panel
Del Dup
NGS
Polycystic liver disease NGS panel
Del Dup
NGS
PKD2
Polycystic kidney disease and related disorders NGS panel
Del Dup
NGS
Polycystic liver disease NGS panel
Del Dup
NGS
PKHD1
Polycystic kidney disease and related disorders NGS panel
NGS
Del Dup
Polycystic liver disease NGS panel
NGS
Del Dup
PKP1
Epidermolysis bullosa NGS panel
Del Dup
NGS
PKP2
Brugada syndrome and related disorders NGS panel
NGS
Del Dup
Cardiac channelopathy NGS panel
NGS
Del Dup
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
Del Dup
NGS
PLEC
Epidermolysis bullosa NGS panel
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
PLEKHG5
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
PLEKHM1
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis NGS panel
NGS
Del Dup
Osteopetrosis, autosomal recessive 6
NGS
Del Dup
PLOD1
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive
Del Dup
NGS
Ehlers-Danlos syndrome, type VI
NGS
Del Dup
PLOD2
Bruck syndrome 2
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
PLS3
Osteogenesis imperfecta NGS panel - Dominant
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, PLS3 related
NGS
Del Dup
PMP22
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
PNPLA1
Ichthyosis NGS panel
NGS
Del Dup
POLD1
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
POLH
Xeroderma pigmentosum NGS panel
NGS
Del Dup
POLR1A
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
POLR1C
Treacher Collins syndrome 3
NGS
Sanger
Del Dup
Treacher Collins syndrome and related disorders NGS panel
NGS
Del Dup
Treacher Collins syndrome core NGS panel
Del Dup
NGS
POLR1D
Treacher Collins syndrome 2
NGS
Sanger
Del Dup
Treacher Collins syndrome and related disorders NGS panel
NGS
Del Dup
Treacher Collins syndrome core NGS panel
Del Dup
NGS
POMGNT1
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
POMK
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
POMP
Ichthyosis NGS panel
NGS
Del Dup
POMT1
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
POMT2
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
POR
Craniosynostosis NGS panel
Del Dup
NGS
PORCN
Focal dermal hypoplasia
Del Dup
NGS
POU1F1
Short stature with endocrinopathy NGS panel
Del Dup
NGS
PPIB
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, type IX
Del Dup
NGS
Sanger
PPP1CB
Noonan spectrum disorder NGS panel
Del Dup
NGS
PRDM5
Brittle cornea syndrome 2
Del Dup
NGS
Brittle cornea syndrome NGS panel
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
PRKACG
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
NGS
Del Dup
PRKCSH
Polycystic liver disease NGS panel
NGS
Del Dup
PRKG1
Aortic aneurysm, familial thoracic 8
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
Del Dup
NGS
PRPH2
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
PRPS1
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
PRX
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
PSAT1
Neu-Laxova syndrome 2
NGS
Del Dup
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
Del Dup
NGS
PTDSS1
Dense bone dysplasia NGS panel
Del Dup
NGS
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
Del Dup
NGS
Failure of tooth eruption, primary
Del Dup
NGS
Metaphyseal chondrodysplasia, Jansen type
NGS
Del Dup
Oligodontia - Selective tooth agenesis NGS panel
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia extended NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
PTPN11
Noonan spectrum disorder NGS panel
NGS
Del Dup
Noonan syndrome core NGS panel
Del Dup
NGS
PTPRO
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
PYCR1
Cutis laxa NGS panel
Del Dup
NGS
Cutis laxa, autosomal recessive, type IIB & type IIIB
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
PYROXD1
Myofibrillar myopathy and related disorders NGS panel
Del Dup
NGS

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