Aortopathy Disorders 19 Gene Panel

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Disorders	Symbol	MIM	Links
Aortic Aneurysm, Familial Thoracic 4 Aortic Aneurysm/Aortic Dissection and Patent Ductus Arteriosus	AAT4 FAA4 TAAD	132900	Genetic Test Registry
Aortic Aneurysm, Familial Thoracic 6 Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi	AAT6 TAAD	611788	Genetic Test Registry
Arterial Tortuosity Syndrome Arterial Tortuosity	ATS	208050	Genetic Test Registry
Arthrogryposis, Distal, Type 9 Beals Syndrome Contractural Arachnodactyly, Congenital	DA9 CCA	121050	Genetic Test Registry
Ectopia Lentis 2, Isolated, Autosomal Recessive	ECTOL2 0	225100	Genetic Test Registry
Ectopia Lentis Et Pupillae Ectopia Lentis With Ectopia Of Pupil	. 0	225200	Genetic Test Registry
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form		225320	Genetic Test Registry
Ehlers-Danlos Syndrome, Classic Type Eds I Ehlers-Danlos Syndrome, Gravis Type Ehlers-Danlos Syndrome, Severe Classic Type Ehlers-Danlos Syndrome, Type I	EDS1	130000	Genetic Test Registry
Ehlers-Danlos Syndrome, Hypermobility Type Benign Hypermobility Syndrome Ehlers-Danlos Syndrome, Type III	EDS III EDS3	130020	Genetic Test Registry
Ehlers-Danlos Syndrome, Type II Ehlers Danlos Syndrome, Mild Classic Type Ehlers Danlos Syndrome, Mitis Type	EDS II EDS2	130010	Genetic Test Registry
Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant Eds IV Ehlers-Danlos Syndrome, Arterial Type Ehlers-Danlos Syndrome, Ecchymotic Type Ehlers-Danlos Syndrome, Sack-Barabas Type Ehlers-Danlos Syndrome, Vascular Type		130050	Genetic Test Registry
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant Arthrochalasis Multiplex Congenita EDS VII, Mutant Procollagen Type EDS VIIB, Included EDS7B, Included Ehlers-Danlos Syndrome, Arthrochalasia Type Eds VIIA	. EDS7A	130060	Genetic Test Registry
Geleophysic Dysplasia 1	GPHYSD1 0	231050	Genetic Test Registry
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency Cbs Deficiency Cystathionine Beta-Synthase Deficiency Homocystinuria Homocystinuria With Or Without Response To Pyridoxine	CBS	236200	Genetic Test Registry
Loeys-Dietz Syndrome 1 Aortic Aneurysm, Familial Thoracic 5 Furlong Syndrome Loeys-Dietz Aortic Aneurysm Syndrome Loeys-Dietz Syndrome, type 1	LDS1 AAT5	609192	Genetic Test Registry
Loeys-Dietz Syndrome 2 Loeys-Dietz Syndrome, Type 2	LDS2	610168	Genetic Test Registry
Loeys-Dietz Syndrome 3 Aneurysms-Osteoarthritis Syndrome Loeys-Dietz Syndrome With Osteoarthritis Loeys-Dietz Syndrome, Type 1C, Formerly Loeys-Dietz Syndrome, Type 3	LDS3 LDS1C, Formerly	613795	Genetic Test Registry
Loeys-Dietz Syndrome 4 Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations Loeys-Dietz Syndrome, Type 4	LDS4	614816	Genetic Test Registry
Marfan Syndrome Marfan Syndrome, Type I	MFS MFS1	154700	Genetic Test Registry
Osteogenesis Imperfecta, Type I Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae	OI1	166200	Genetic Test Registry
Osteogenesis Imperfecta, Type II Oi, Type II Osteogenesis Imperfecta Congenita Osteogenesis Imperfecta Congenita, Neonatal Lethal Form Vrolik Type Of Osteogenesis Imperfecta	OI2 OI2 OIC	166210	Genetic Test Registry
Osteogenesis Imperfecta, Type III Oi, Type III Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae	OI3 OI3	259420	Genetic Test Registry
Osteogenesis Imperfecta, Type IV Oi, Type IV Osteogenesis Imperfecta With Normal Sclerae	OI4	166220	Genetic Test Registry
Weill-Marchesani Syndrome 1 Mesodermal Dysmorphodystrophy, Congenital Spherophakia-Brachymorphia Syndrome Weill-Marchesani Syndrome, Autosomal Recessive	WMS1	277600	Genetic Test Registry
Weill-Marchesani-Like Syndrome	. 0	613195	Genetic Test Registry

Genes	Symbol	MIM	HGNC
actin, alpha 2, smooth muscle, aorta actin, alpha, smooth muscle, aortic actin, vascular smooth muscle	ACTA2 ACTSA	102620	130
ADAM metallopeptidase with thrombospondin type 1 motif, 10 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10	ADAMTS10	608990	13201
ADAM metallopeptidase with thrombospondin type 1 motif, 17 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17	ADAMTS17 0	607511	17109
ADAMTS-like 2 0	ADAMTSL2 KIAA0605	612277	14631
ADAMTS-like 4 thrombospondin repeat containing 1	ADAMTSL4 TSRC1	610113	19706
collagen, type I, alpha 1 COL1A1/PDGFB fusion gene, included collagen of skin, tendon, and bone, alpha-1 chain collagen, type I, alpha-1	COL1A1 OI4	120150	2197
collagen, type I, alpha 2 chain collagen of skin, tendon, and bone, alpha-2 chain collagen, type I, alpha 2 collagen, type I, alpha-2	COL1A2 OI4	120160	2198
collagen, type III, alpha 1 chain collagen, type III, alpha 1 ehlers-danlos syndrome type IV, autosomal dominant	COL3A1 EDS4A	120180	2201
collagen, type V, alpha 1 alpha 1 type v collagen	COL5A1	120215	2209
collagen, type V, alpha 2 chain ab collagen collagen, fetal membrane, a polypeptide collagen, type V, alpha 2	COL5A2	120190	2210
cystathionine-beta-synthase 0	CBS HIP4	613381	1150
fibrillin 1 fibrillin fibrillin 1 (marfan syndrome)	FBN1 FBN MASS MFS1 OCTD SGS	134797	3603
fibrillin 2 congenital contractural arachnodactyly	FBN2 DA9	612570	3604
myosin, heavy chain 11 myosin, heavy chain 11, smooth muscle myosin, smooth muscle, heavy chain 11 smooth muscle myosin heavy chain	MYH11 SMHC SMMHC	160745	7569
SMAD family member 3 MAD, mothers against decapentaplegic homolog 3 (Drosophila) mothers against decapentaplegic, drosophila, homolog of, 3 SMA- and MAD-related protein 3 SMAD, mothers against DPP homolog 3 (Drosophila)	SMAD3 MADH3	603109	6769
solute carrier family 2 member 10 solute carrier family 2 (facilitated glucose transporter) member 10	SLC2A10 GLUT10	606145	13444
transforming growth factor, beta 2 transforming growth factor, beta-2	TGFB2	190220	11768
transforming growth factor, beta receptor 1 activin a receptor type II-like kinase, 53kda	TGFBR1 ACVRLK4 ALK-5	190181	11772
transforming growth factor, beta receptor 2 colorectal cancer, hereditary nonpolyposis type 6 transforming growth factor, beta receptor II (70-80kd)	TGFBR2 MFS2	190182	11773

Testing criteria	Aortopathy Disorders 19 Gene Panel

Specialties	Cardiology, Adult Cardiology, Paediatric Clinical Genetics

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s) Note: For six gene panel FBN1, TGFBR1&2, ACTA2, SMAD3 & MYH11	Postnatal Diagnosis Routine	Salisbury RGC	56	£750
Sequencing of the entire coding region of gene (s) Note: Follow up analysis after 6 gene sub panel	Postnatal Diagnosis Routine	Salisbury RGC	112	£300
Sequencing of the entire coding region of gene (s) Note: Full 19 gene panel	Postnatal Diagnosis Routine	Salisbury RGC	112	£950
Testing for known mutations in family members Note: per mutation (additional charge for MCC)	Prenatal Diagnosis	Salisbury RGC	3	£180
Testing for known mutations in family members Note: per mutation	Postnatal Diagnosis Routine	Salisbury RGC	28	£180
Testing for known mutations in family members Note: per mutation	Postnatal Diagnosis Urgent	Salisbury RGC	14	£180