Joubert Syndrome and Related Disorders 18 Gene Panel

Laboratories

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Routine	Oxford RGC	112	£900
Testing for known mutations in family members	Prenatal Diagnosis	Oxford RGC	3	£450
Testing for known mutations in family members	Postnatal Diagnosis Routine	Oxford RGC	14	£170
Testing for known mutations in family members	Postnatal Diagnosis Urgent	Oxford RGC	3	£170

Genes & Disorders

Show alternative names & symbols

Disorders	Symbol	MIM	Links
COACH Syndrome Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis Joubert Syndrome With Congenital Hepatic Fibrosis		216360	Genetic Test Registry
Joubert Syndrome 1 Cerebellooculorenal Syndrome 1 Cerebelloparenchymal Disorder IV Joubert Syndrome Joubert-Boltshauser Syndrome	JBTS1 CORS1 CPD4 JBTS	213300	Genetic Test Registry
Joubert Syndrome 10	JBTS10	300804	Genetic Test Registry
Joubert Syndrome 12	JBTS12	200990	Genetic Test Registry
Joubert Syndrome 13	JBTS13	614173	Genetic Test Registry
Joubert Syndrome 14	JBTS14	614424	Genetic Test Registry
Joubert Syndrome 15	JBTS15	614464	Genetic Test Registry
Joubert Syndrome 16	JBTS16	614465	Genetic Test Registry
Joubert Syndrome 17	JBTS17	614615	Genetic Test Registry
Joubert Syndrome 2 Cerebellooculorenal Syndrome 2	JBTS2 CORS2	608091	Genetic Test Registry
Joubert Syndrome 3	JBTS3	608629	Genetic Test Registry
Joubert Syndrome 4	JBTS4	609583	Genetic Test Registry
Joubert Syndrome 5	JBTS5	610188	Genetic Test Registry
Joubert Syndrome 6	JBTS6	610688	Genetic Test Registry
Joubert Syndrome 7	JBTS7	611560	Genetic Test Registry
Joubert Syndrome 8	JBTS8	612291	Genetic Test Registry
Joubert Syndrome 9	JBTS9	612285	Genetic Test Registry
Senior-Loken Syndrome 1 Juvenile Nephronophthisis With Leber Amaurosis Loken-Senior Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Senior-Loken Syndrome	SLSN1	266900	Genetic Test Registry
Senior-Loken Syndrome 6	SLSN6	610189	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
Abelson helper integration site 1 Abelson helper integration site Jouberin	AHI1 JBTS3	608894	21575
ADP ribosylation factor-like 13B ARL2-like protein 1	ARL13B ARL2L1	608922	25419
centrosomal protein 290 antigen identified by monoclonal antibody 3H11 BBS14 gene centrosomal protein 290kDa nephrocystin 6	CEP290 POC3	610142	29021
centrosomal protein 41 centrosomal protein 41kDa testis specific, 14 testis-specific protein A14 testis-specific protein 14	CEP41 TSGA14	610523	12370
chromosome 5 open reading frame 42	C5orf42 Hug	614571	25801
coiled-coil and C2 domain containing 2A	CC2D2A JBTS9	612013	29253
inositol polyphosphate-5-phosphatase E inositol polyphosphate-5-phosphatase, 72 kDa Joubert syndrome 1	INPP5E JBTS1	613037	21474
kinesin family member 7	KIF7 JBTS12	611254	30497
nephrocystin 1 nephrocystin-1 nephronophthisis 1 (juvenile) nephronophthisis, familial juvenile	NPHP1 NPH1	607100	7905
OFD1, centriole and centriolar satellite protein chromosome X open reading frame 5 oral-facial-digital syndrome 1 retinitis pigmentosa 23 (X-linked recessive)	OFD1 RP23	300170	2567
RPGRIP1-like nephrocystin 8	RPGRIP1L PPP1R134	610937	29168
tectonic family member 1 tectonic tectonic 1	TCTN1 JBTS13	609863	26113
tectonic family member 2 chromosome 12 open reading frame 38 tectonic 2	TCTN2 C12orf38	613846	25774
tetratricopeptide repeat domain 21B tetratricopeptide repeat domain-containing protein 21B tetratricopeptide repeat-containing hedgehog modulator 1	TTC21B THM1	612014	25660
transmembrane protein 138	TMEM138 JBTS16	614459	26944
transmembrane protein 216 cerebello-oculo-renal syndrome 2 Meckel syndrome, type 2	TMEM216 CORS2	613277	25018
transmembrane protein 237 ALS2 chromosome region gene 4 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4	TMEM237 ALS2CR4	614423	14432
transmembrane protein 67	TMEM67 NPHP11 THEM67	609884	28396

Testing Criteria & Gene Dossiers

Testing criteria	Joubert Syndrome and Related Disorders 18 Gene Panel

Gene dossier	Joubert Syndrome and Related Disorders 18 Gene Panel Oxford RGC

Specialties

Specialties	Clinical Genetics

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