|
Alzheimer disease, early-onset
|
APP 21q21.3
|
P170-APP
|
€ 1145
|
|
Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy
|
MAPT 17q21
|
P275-MAPT
|
€ 1145
|
|
Angelman
|
UBE3A, MTHFR, GABRB3, AXIN1
|
P336-UBE3A
|
€ 1145
|
|
Broad subtelomere screening
|
All subtelomeres
|
P036-Telomere-3
|
€ 1145
|
|
Broad subtelomeric screening
|
All subtelomeres
|
P070-Telomere-5
|
€ 1145
|
|
Cerebral carvernous malformations (CCM)
|
CCM 7q21
|
P131-CCM mix-B
|
€ 1145
|
|
Cerebral carvernous malformations (CCM)
|
CCM 7q21
|
P130-CCM mix-A
|
€ 1145
|
|
Charcot-Marie Tooth disease (CMT1), Hereditary Neuropathy with liability to Pressure Palsies (HNPP)
|
CMT1/HNPP region, 17p11.2
|
P033-CMT1
|
€ 1145
|
|
Charcot-Marie-Tooth disease (CMT2A/1B)
|
MFN2 1p36.2, MPZ 1q22
|
P143-MFN2-MPZ
|
€ 1145
|
|
Coffin-Lowry Syndrome (CLS)
|
RPS6KA3, PQBP1.
|
P259-RPS6KA3
|
€ 1145
|
|
Congenital nystagmus
|
Xq26 (NYS1 locus), FRMD7
|
P269-FRMD7
|
€ 1145
|
|
Dopa-responsive dystonia, Segawa disease; Myoclonus-dystonia syndrome
|
TH 11p15.5, GCH114q22, SGCE 7q21
|
P099-GCH1-TH-SGCE
|
€ 1145
|
|
Down syndrome, Edwards syndrome, Patau syndrome
|
Chr. 13, 18, 21, X, Y
|
P095-Aneuploidy
|
€ 1145
|
|
Duchene Muscular Dystrophy (DMD)
|
DMD, Xp21.2
|
P034-DMD-1
|
€ 1145
|
|
Duchenne Muscular Dystrophy (DMD)
|
DMD, Xp21.2
|
P035-DMD-2
|
€ 1145
|
|
Dyslexia
|
DCDC2 6p22, ROBO1 3q12, ROBO2 3q12, NRSN1 6p22
|
P150-Dyslexia
|
€ 1145
|
|
Epilepsy
|
SCN1a 2q24.3
|
P137-SCN1A
|
€ 1145
|
|
Episodic ataxia 2, Familial hemiplegic migraine
|
CACNA1A
|
P279-CACNA1A
|
€ 1145
|
|
Hearing loss
|
GJB 1p35.1 (connexin 31), WFS1 4p16.1 (Wolframin)
|
P163-GJB-WFS1
|
€ 1145
|
|
Hereditary Spastic Paraplegias (HSPs) region
|
SPAST 2p22, NIPA1 15q11
|
P211-HSP region
|
€ 1145
|
|
Hereditary spastic paraplegia (HSP or SPG)
|
SPG11 or KIAA1840 15q21.1
|
P306-SPG11
|
€ 1145
|
|
Hereditary spastic paraplegias (HSPs)
|
REEP1 (SPG31) 2p11.2, SPG7 16q24.3
|
P213-HSP2
|
€ 1145
|
|
Kallmann syndrome
|
FGFR1 8p11.2, GNRHR 8p21, KISSR1 19p13.3 , GNRH1, NELF 9q34.3
|
P133-Kallmann-2
|
€ 1145
|
|
Kallmann syndrome, x-linked
|
KAL1 Xp22
|
P132-Kallmann-1
|
€ 1145
|
|
Laminopathies, Limb-girdle muscular dystrophy, Myofibrillar myopathies
|
LMNA 1q21.2-1q21.3
|
P048-LMNA/MYOT
|
€ 1145
|
|
Leukodystrophy
|
LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12
|
P071-LMNB1-PLP1
|
€ 1145
|
|
Limb girdle muscular dystrophies (LGMD)
|
DYSF 2p13
|
P268-DYSF
|
€ 1145
|
|
Limb-girdle muscular dystrophy (LGMD)
|
SGCA, SGCB, SGCD, SGCG, FKRP
|
P116-SGC
|
€ 1145
|
|
Lissencephaly
|
LIS1, DCX, POMT1, POMGnT1, FLNA
|
P061-Lissencephaly
|
€ 1145
|
|
Menkes disease
|
ATP7A Xq13.3
|
P104-Menkes
|
€ 1145
|
|
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos
|
Various
|
P064-MR-1
|
€ 1145
|
|
Mental retardation, x-linked (XLMR)
|
Chromosome X
|
P106-MRX
|
€ 1145
|
|
Microdeletion syndromes
|
Various
|
P297-Microdeletion-2
|
€ 1145
|
|
Microdeletion syndromes
|
Various
|
P245-Microdeletion-1
|
€ 1145
|
|
Neurofibromatosis
|
NF1 17q11.2
|
P082-NF1 mix 2
|
€ 1145
|
|
Neurofibromatosis
|
NF1 17q11.2
|
P081-NF1 mix 1
|
€ 1145
|
|
Neurofibromatosis
|
NF1 17q11.2
|
P122-NF1-area
|
€ 1145
|
|
Neurofibromatosis type 2 (NF2)
|
NF2 22q12
|
P044-NF2improved
|
€ 1145
|
|
Neurometabolic disorders
|
ASPA, MLC1, MLYCD, D2HGDH, L2HGDH
|
P107-Neurometabolic
|
€ 1145
|
|
Parkinson disease, familial
|
PARK2 6q25.2, SNCA 4q21, Pink1, Park7 1p36
|
P051-Parkinson mix 1
|
€ 1145
|
|
Parkinson disease, familial
|
PARK2 6q25.2, UCHL1 4p14, GCH1 14q22.1, LRRK2 12q12
|
P052-Parkinson mix 2
|
€ 1145
|
|
Pelizaeus-Merzbacher disease (PMD)
|
PLP1 Xq22
|
P022 -PLP1
|
€ 1145
|
|
Pendred syndrome
|
SLC26A4 7q31
|
P280-SLC26A4improved
|
€ 1145
|
|
Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3
|
22q13.3, SHANK3, ACR, RABL2B
|
P188-22q13
|
€ 1145
|
|
Prader Willi syndrome (PWS), Angelman syndrome (AS)
|
PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2
|
ME028-PWS/AS
|
€ 1145
|
|
Prenatal microdeletion screening
|
Various
|
P290-Prenatal
|
€ 1145
|
|
RETT syndrome
|
MECP2, Xq28
|
P015-MECP2
|
€ 1145
|
|
Recessive Ataxias
|
SETX, APTX, FXN.
|
P316-Ataxias
|
€ 1145
|
|
Retinitis Pigmentosa
|
RHO 3q21.3, RP1 8q11.2, IMPDH1 7q32, PRPF31 19q13.4
|
P235-Retinitis
|
€ 1145
|
|
Retinitis pigmentosa (RP)
|
CHM-RP2-RPGR
|
P366-CHM-RP2-RPGRnew
|
€ 1145
|