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51 Result(s)

List of diseases tested (291)

APC-related attenuated familial adenomatous polyposis
Abetalipoproteinemia
Acrocallosal syndrome
Adenylosuccinate synthetase-like 1-related distal myopathy
Adult-onset autosomal recessive cerebellar ataxia
Adult-onset distal myopathy due to VCP mutation
Aicardi-Goutières syndrome
Allan-Herndon-Dudley syndrome
Alpha-B crystallin-related late-onset myopathy
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Amish nemaline myopathy
Anoctamin-5-related limb-girdle muscular dystrophy R12
Ataxia with vitamin E deficiency
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-oculomotor apraxia type 1
Ataxia-oculomotor apraxia type 4
Ataxia-telangiectasia
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant centronuclear myopathy
Autosomal dominant dopa-responsive dystonia
Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal dominant non-syndromic intellectual disability
Autosomal dominant non-syndromic sensorineural deafness type DFNA
Autosomal dominant optic atrophy, classic form
Autosomal dominant spastic paraplegia type 12
Autosomal dominant spastic paraplegia type 13
Autosomal dominant spastic paraplegia type 17
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 4
Autosomal dominant spastic paraplegia type 42
Autosomal dominant spastic paraplegia type 9A
Autosomal dominant spastic paraplegia type 9B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive ataxia, Beauce type
Autosomal recessive centronuclear myopathy
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive non-syndromic sensorineural deafness type DFNB
Autosomal recessive polycystic kidney disease
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 28
Autosomal recessive spastic paraplegia type 35
Autosomal recessive spastic paraplegia type 39
Autosomal recessive spastic paraplegia type 44
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 48
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spastic paraplegia type 56
Autosomal recessive spastic paraplegia type 5A
Autosomal recessive spastic paraplegia type 62
Autosomal recessive spastic paraplegia type 63
Autosomal recessive spastic paraplegia type 69
Autosomal recessive spastic paraplegia type 75
Autosomal recessive spastic paraplegia type 76
Autosomal recessive spastic paraplegia type 77
Autosomal recessive spastic paraplegia type 78
Autosomal spastic paraplegia type 30
Autosomal spastic paraplegia type 58
BVES-related limb-girdle muscular dystrophy
Benign Samaritan congenital myopathy
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Bethlem myopathy
Calpain-3-related limb-girdle muscular dystrophy R1
Cap myopathy
Central core disease
Cerebellar ataxia, Cayman type
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia-hypogonadism syndrome
Cerebrotendinous xanthomatosis
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Childhood-onset nemaline myopathy
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Choroideremia
Christianson syndrome
Classic multiminicore myopathy
Congenital bilateral absence of vas deferens
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital fiber-type disproportion myopathy
Congenital generalized hypercontractile muscle stiffness syndrome
Congenital lethal myopathy, Compton-North type
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with integrin alpha-7 deficiency
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy without intellectual disability
Congenital muscular dystrophy, Fukuyama type
Congenital muscular dystrophy, Ullrich type
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital myopathy with excess of thin filaments
Congenital myopathy with internal nuclei and atypical cores
Congenital myopathy with myasthenic-like onset
Congenital myopathy, Paradas type
Cystic fibrosis
DNAJB6-related limb-girdle muscular dystrophy D1
DPM3-CDG
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Desmin-related myopathy with Mallory body-like inclusions
Desminopathy
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Distal anoctaminopathy
Distal myopathy with anterior tibial onset
Distal myopathy with posterior leg and anterior hand involvement
Distal myopathy, Tateyama type
Distal myopathy, Welander type
Distal myotilinopathy
Distal nebulin myopathy
Duchenne and Becker muscular dystrophy
Dysferlin-related limb-girdle muscular dystrophy R2
EAST syndrome
Early infantile epileptic encephalopathy
Early-onset generalized limb-onset dystonia
Early-onset myopathy with fatal cardiomyopathy
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, generalized severe
Episodic ataxia type 1
Episodic ataxia type 6
FKRP-related limb-girdle muscular dystrophy R9
Fabry disease
Familial adenomatous polyposis
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Familial isolated restrictive cardiomyopathy
Familial paroxysmal ataxia
Fatal infantile hypertonic myofibrillar myopathy
Fatty acid hydroxylase-associated neurodegeneration
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fragile X syndrome
Friedreich ataxia
Fukutin-related limb-girdle muscular dystrophy R13
GMPPB-related limb-girdle muscular dystrophy R19
GNE myopathy
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, late-onset
HNRNPDL-related limb-girdle muscular dystrophy D3
Heart-hand syndrome, Slovenian type
Hemolytic disease due to fetomaternal alloimmunization
Hemophilia A
Hereditary chronic pancreatitis
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Hereditary myopathy with early respiratory failure
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Huntington disease
Hyaline body myopathy
Hydrocephalus with stenosis of the aqueduct of Sylvius
Hypokalemic periodic paralysis
Hypophosphatasia
ISPD-related limb-girdle muscular dystrophy R20
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Incontinentia pigmenti
Infantile cerebellar-retinal degeneration
Infantile-onset spinocerebellar ataxia
Intermediate nemaline myopathy
Joubert syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with hepatic defect
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
KLHL9-related early-onset distal myopathy
King-Denborough syndrome
Kleefstra syndrome due to a point mutation
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
LIMS2-related limb-girdle muscular dystrophy
Laing early-onset distal myopathy
Laminin subunit alpha 2-related congenital muscular dystrophy
Late-onset distal myopathy, Markesbery-Griggs type
Left ventricular noncompaction
Leigh syndrome with leukodystrophy
MYH7-related late-onset scapuloperoneal muscular dystrophy
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Marshall-Smith syndrome
Megaconial congenital muscular dystrophy
Miyoshi myopathy
Moderate multiminicore disease with hand involvement
Multiple endocrine neoplasia type 1
Multiple mitochondrial dysfunctions syndrome type 1
Multiple system atrophy, cerebellar type
Muscle filaminopathy
Muscle-eye-brain disease
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Muscular dystrophy, Selcen type
Mutilating hereditary sensory neuropathy with spastic paraplegia
Myopathic Ehlers-Danlos syndrome
Myosclerosis
Native American myopathy
Neutral lipid storage myopathy
Osteogenesis imperfecta type 1
POMGNT1-related limb-girdle muscular dystrophy R15
POMT1-related limb-girdle muscular dystrophy R11
POMT2-related limb-girdle muscular dystrophy R14
Pelizaeus-Merzbacher disease
Periodic paralysis with transient compartment-like syndrome
Plectin-related limb-girdle muscular dystrophy R17
Pontocerebellar hypoplasia type 1
Posterior column ataxia-retinitis pigmentosa syndrome
Progressive scapulohumeroperoneal distal myopathy
Proximal myopathy with focal depletion of mitochondria
Proximal spinal muscular atrophy
Pyruvate dehydrogenase E1-alpha deficiency
Recessive mitochondrial ataxia syndrome
Reducing body myopathy
Refsum disease
Renal coloboma syndrome
Retinitis pigmentosa
Retinoblastoma
Rigid spine syndrome
Rippling muscle disease
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Severe congenital nemaline myopathy
Severe intellectual disability and progressive spastic paraplegia
Sickle cell anemia
Spastic paraplegia type 2
Spastic paraplegia type 7
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Spheroid body myopathy
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 13
Spinocerebellar ataxia type 14
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 23
Spinocerebellar ataxia type 27
Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 3
Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 40
Spinocerebellar ataxia type 42
Spinocerebellar ataxia type 6
Spinocerebellar ataxia with epilepsy
Steinert myotonic dystrophy
Succinic semialdehyde dehydrogenase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
TNP03-related limb-girdle muscular dystrophy D2
TOR1AIP1-related limb-girdle muscular dystrophy
TRAPPC11-related limb-girdle muscular dystrophy R18
TRIM32-related limb-girdle muscular dystrophy R8
Telethonin-related limb-girdle muscular dystrophy R7
Thyrotoxic periodic paralysis
Tibial muscular dystrophy
Titin-related limb-girdle muscular dystrophy R10
Treacher-Collins syndrome
Tubular aggregate myopathy
Typical nemaline myopathy
Undetermined early-onset epileptic encephalopathy
Usher syndrome type 1
Usher syndrome type 2
Usher syndrome type 3
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
Vascular Ehlers-Danlos syndrome
Vocal cord and pharyngeal distal myopathy
Von Hippel-Lindau disease
Walker-Warburg syndrome
Wiedemann-Steiner syndrome
Wiskott-Aldrich syndrome
X-linked Alport syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked centronuclear myopathy
X-linked cerebral adrenoleukodystrophy
X-linked dominant chondrodysplasia punctata
X-linked myopathy with postural muscle atrophy
X-linked myotubular myopathy-abnormal genitalia syndrome
X-linked non-syndromic sensorineural deafness type DFN
X-linked retinoschisis
X-linked scapuloperoneal muscular dystrophy
X-linked sideroblastic anemia and spinocerebellar ataxia
Xeroderma pigmentosum
Xeroderma pigmentosum-Cockayne syndrome complex
Zebra body myopathy

List of genes tested (including panels) (722)

AAAS
AARS
AARS2
ABCA4
ABCB7
ABCD1
ABHD12
ABHD5
ACO2
ACOX1
ACTA1
ACTB
ACTG1
ADA2
ADAR
ADCY1
ADCY5
ADGRG1
ADGRV1
ADSSL1
AFG3L2
AHI1
AIMP1
ALAS2
ALDH18A1
ALDH3A2
ALDH5A1
ALDH7A1
ALG6
ALPL
ALS2
AMACR
AMPD2
ANO10
ANO5
AP4B1
AP4E1
AP4M1
AP4S1
AP5Z1
APC
APOB
APTX
ARL13B
ARSA
ARSI
ARV1
ARX
ASPA
ATCAY
ATG5
ATL1
ATM
ATP13A2
ATP1A2
ATP1A3
ATP6AP2
ATP7B
ATP8A2
ATXN1
ATXN2
ATXN3
AUH
B4GALNT1
BAG3
BBS1
BCAP31
BCKDHB
BEST1
BIN1
BRAT1
BRF1
BSCL2
BTD
BVES
C12ORF65
C19ORF12
C8ORF37
CA8
CABP2
CACNA1A
CACNA1G
CACNA1S
CAPN1
CAPN3
CASK
CASQ1
CAV3
CC2D2A
CCDC50
CCDC78
CCDC88C
CCT5
CD59
CDC14A
CDH23
CDKL5
CEACAM16
CEP290
CEP41
CERKL
CFL2
CFTR
CHKB
CHM
CHMP1A
CIB2
CISD2
CLCN2
CLDN14
CLIC5
CLN3
CLN5
CLN6
CLP1
CLPP
CLRN1
CNGA1
CNGB1
CNTN1
CNTN2
COASY
COCH
COG5
COL12A1
COL18A1
COL1A1
COL3A1
COL4A1
COL4A5
COL4A6
COL6A1
COL6A2
COL6A3
COMT
COQ2
COQ4
COQ8A
COQ9
COX15
COX20
CP
CPLANE1
CRB1
CRPPA
CRYAB
CRYM
CSF1R
CSPP1
CSTB
CTC1
CTDP1
CTLA4
CTSA
CTSD
CWF19L1
CYP27A1
CYP2U1
CYP7B1
DAG1
DARS2
DCAF17
DCTN1
DDB2
DDC
DDHD1
DDHD2
DES
DHDDS
DHFR
DIABLO
DIAPH1
DIAPH3
DKC1
DLAT
DLD
DMD
DMPK
DMXL2
DNAJB6
DNAJC19
DNAJC3
DNAJC5
DNAJC6
DNM1L
DNM2
DPM3
DRD5
DYSF
EARS2
EBP
EGR2
EHMT1
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELOVL4
ELOVL5
EMC1
ENTPD1
EPM2A
EPS8
EPS8L2
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC8
ERLIN1
ERLIN2
ESRRB
ETFA
ETFB
ETFDH
ETHE1
EXOSC3
EXOSC8
EYA4
EYS
F8
FA2H
FAM126A
FAM161A
FARS2
FBXL4
FBXO7
FGF14
FHL1
FKRP
FKTN
FLNC
FLVCR1
FMR1
FOLR1
FOXG1
FOXI1
FOXRED1
FTL
FUCA1
FXN
GAA
GAD1
GALC
GAMT
GARS
GBA
GBA2
GBE1
GCDH
GCH1
GCLC
GFAP
GIGYF2
GIPC3
GJA1
GJB2
GJB3
GJB6
GJC2
GLA
GLB1
GLDC
GLRA1
GLRB
GM2A
GMPPA
GMPPB
GNE
GOLGA2
GOSR2
GPSM2
GRHL2
GRID2
GRIN2B
GRM1
GRN
GRXCR1
GRXCR2
GSDME
HACD1
HACE1
HARS1
HARS2
HBB
HEPACAM
HERC1
HEXA
HEXB
HGF
HIBCH
HMGCL
HNRNPA1
HNRNPDL
HOMER2
HPD
HPRT1
HSD17B4
HSPD1
HTRA1
HTRA2
HTT
IDH3B
IFIH1
IFT140
IKBKG
ILDR1
IMPG2
INPP5E
ITGA7
ITPR1
KARS
KBTBD13
KCNA1
KCNA2
KCNC3
KCND3
KCNJ10
KCNMA1
KCNQ4
KCNT1
KCTD7
KIF1A
KIF1C
KIF5A
KIF7
KITLG
KLHL40
KLHL41
KLHL9
KRT14
KY
L1CAM
L2HGDH
LAMA1
LAMA2
LAMB1
LARGE1
LARS2
LDB3
LHFPL5
LIMS2
LMNA
LMNB1
LMNB2
LMOD3
LOXHD1
LRAT
LRRK2
LRTOMT
LYST
MAG
MAK
MAN2B1
MAPT
MARVELD2
MATR3
MCOLN1
MECP2
MEGF10
MEN1
MERTK
MFN2
MFSD8
MICU1
MIR96
MKS1
MLC1
MMACHC
MMADHC
MOCS2
MPLKIP
MPV17
MPZ
MRE11
MSRB3
MTFMT
MTM1
MTO1
MTPAP
MTTP
MVK
MYBPC3
MYH14
MYH2
MYH7
MYH9
MYO15A
MYO18B
MYO3A
MYO6
MYO7A
MYOT
MYPN
NARS2
NDUFA1
NDUFA10
NDUFA12
NDUFA13
NDUFA2
NDUFA6
NDUFA9
NDUFAF2
NDUFS3
NDUFS4
NDUFS7
NDUFS8
NDUFV1
NEB
NEFL
NEU1
NFIX
NFU1
NHLRC1
NIPA1
NKX2-1
NPC1
NPC2
NPHP1
NR2E3
NR2F1
NRL
NUBPL
NUP62
OFD1
OPA1
OPA3
OPHN1
ORAI1
OSBPL2
OTC
OTOA
OTOF
OTOG
OTOGL
PANK2
PARK7
PARN
PAX2
PAX6
PCARE
PCDH15
PCLO
PCNA
PDE6A
PDE6B
PDE6D
PDE6G
PDGFB
PDHA1
PDHX
PDSS1
PDSS2
PDYN
PDZD7
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGAP1
PGM3
PHYH
PINK1
PJVK
PKHD1
PLA2G6
PLEC
PLP1
PMM2
PMP22
PMPCA
PNKD
PNKP
PNP
PNPLA2
PNPLA6
POLG
POLH
POLR1C
POLR1D
POLR3A
POLR3B
POMGNT1
POMT1
POMT2
POU3F4
POU4F3
PRCD
PRF1
PRICKLE1
PRKCG
PRKN
PRKRA
PRNP
PROM1
PRPF31
PRPS1
PRRT2
PRX
PSAP
PTF1A
PTPRQ
PTRH2
PYCR2
QDPR
RAB29
RAB39B
RAB3GAP1
RAB3GAP2
RARS2
RB1
RBP3
RDX
REEP1
RGR
RHO
RIPOR2
RLBP1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF170
RNF216
ROGDI
RORA
RP1
RP1L1
RPE65
RPGR
RPGRIP1L
RPIA
RRM2B
RS1
RTN2
RUBCN
RYR1
SACS
SAG
SAMHD1
SAR1B
SARS2
SCARB2
SCN1A
SCP2
SDHA
SDHAF1
SELENON
SEPSECS
SERPINB6
SETX
SGCA
SGCB
SGCD
SGCE
SGCG
SIL1
SLC13A5
SLC16A2
SLC17A5
SLC17A8
SLC19A3
SLC1A3
SLC25A15
SLC25A20
SLC25A46
SLC26A4
SLC26A5
SLC2A1
SLC30A10
SLC33A1
SLC46A1
SLC52A2
SLC52A3
SLC6A19
SLC6A3
SLC9A1
SLC9A6
SMC1A
SMN1
SMPX
SNCA
SNX14
SOD1
SOX10
SOX2
SPART
SPAST
SPATA7
SPEG
SPG11
SPG21
SPG7
SPR
SPTAN1
SPTBN2
SQSTM1
SRD5A3
STAC3
STIL
STIM1
STRC
STUB1
STXBP1
SUCLA2
SUMF1
SUOX
SURF1
SYNE1
SYNE4
SYNJ1
SYT14
TAF1
TAZ
TBC1D24
TCAP
TCOF1
TCTN1
TCTN2
TCTN3
TDP1
TDP2
TECPR2
TECTA
TELO2
TH
THAP1
TIA1
TIMM8A
TJP2
TMC1
TMEM126A
TMEM138
TMEM216
TMEM231
TMEM237
TMEM240
TMEM67
TMIE
TMPRSS3
TNNT1
TNPO3
TOR1A
TOR1AIP1
TPK1
TPM2
TPM3
TPP1
TPRN
TRAPPC11
TREM2
TREX1
TRIM32
TRIM54
TRIM63
TRIOBP
TRIP4
TRNT1
TSEN2
TSEN34
TSEN54
TSFM
TSPEAR
TTBK2
TTC19
TTC8
TTN
TTPA
TUBA8
TUBB4A
TULP1
TWNK
TXN2
TYMP
TYROBP
UBE3A
UCHL1
UROC1
USH1C
USH1G
USH2A
VARS1
VCP
VHL
VLDLR
VPS13A
VPS13B
VPS35
VPS53
VRK1
WAS
WASHC5
WDR45
WDR62
WDR73
WDR81
WFS1
WHRN
WWOX
XK
XPA
XRCC1
XRCC4
YARS
YARS2
ZFYVE26
ZNF423
ZNF513
7
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By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (51)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of familial idiopathic torsion dystonia (TOR1A gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Duchenne and Becker muscular dystrophy and familial dilated cardiomyopathy (DMD gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of cystic fibrosis (exhaustive search for mutations of CFTR gene and rearrangements)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Steinert myotonic dystrophy (DMPK gene : targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of retinoblastoma (RB1 gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of proximal spinal muscular atrophy (SMN1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Huntington disease (HTT gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Von Hippel-Lindau disease (VHL gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of autosomal dominant spinocerebellar ataxia (ATXN1 and PRKCG genes)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of congenital bilateral absence of vas deferens (CFTR gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of familial adenomatous polyposis (APC gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Fragile X syndrome (FMR1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of hemophilia A (F8 gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of sickle cell anemia (HBB gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of autosomal dominant spinocerebellar ataxia (ATXN3 gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of hydrocephalus with stenosis of aqueduct of Sylvius (L1CAM gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of X-linked cerebral adrenoleukodystrophy (ABCD1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Friedreich ataxia (FXN gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of choroideremia (CHM gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques, Array based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2A2 (MFN2 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of epidermolysis bullosa simplex, Dowling-Meara type (KRT14 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis for hemolytic disease due to fetomaternal alloimmunization (RhD)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis for congenital muscular dystrophy type 1A (LAMA2 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis for autosomal recessive polycystic kidney disease (PKHD1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis for sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (MOCS2 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis for osteogenesis imperfecta type 1 (COL1A1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of acrocallosal syndrome (KIF7 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of autosomal dominant spastic paraplegia type 4 (SPAST gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Treacher-Collins syndrome (TCOF1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of hypophosphatasia (ALPL gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Aicardi-Goutières syndrome (TREX1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of incontinentia pigmenti (IKBKG gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Pelizaeus-Merzbacher disease (PLP1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of X-linked retinoschisis (RS1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of X-linked Alport syndrome (COL4A45 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Wiskott-Aldrich syndrome (WAS gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of X-linked centronuclear myopathy (MTM1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Fabry disease (GLA gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of X-linked dominant chondrodysplasia punctata (EBP gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Ehlers-Danlos syndrome, vascular type (COL3A1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of renal coloboma syndrome (PAX2 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of ataxia, spastic paraplegia and related neurodegenerative diseases (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of Usher syndrome (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of non-syndromic retinitis pigmentosa (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of ataxia with vitamin E deficiency (TTPA gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of hereditary chronic pancreatitis (CFTR gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6 (ATXN1, ATXN2, ATXN3, CACNA1A genes)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of non-syndromic genetic deafness (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, Array based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of myopathy and muscular dystrophy (Wide Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)