MLPA mix

Known Syndrome / Disease

Chromosomal Area / Genes

ME001-Tumour suppressor mix 1

Tumour suppressor genes

Various

ME002-Tumour suppressor mix 2

Tumour suppressor genes

Various

ME003-Tumour suppressor mix 3

Tumour suppressor genes

Various

ME004-Tumour suppresoor mix 4

Tumour suppressor genes

Various

ME011-MMR

Mismatch repair genes(MMR)

MLH1, MSH2, MSH6, MLH3, MSH3

ME012-MGMT

Aberrant methylation

MGMT

ME024-9p21

Tumours, Cutaneous melanoma

9p21, CDKN2A, CDKNA2B

ME029-FMR1/AFF2

Fragile X

FMR1, AFF2

ME030-BWS/RSS

Beckwith-Wiedemann

11p15 region, H19, IGF2,

ME031-GNAS

Albright hereditary osteodystrophy (AHO), Pseudohypoparathyroidism (PHP)

GNAS 20q13.32

ME032-UPD7-UPD14

Aberrant methylation

GRB10, MEG3, MEST, MIR380, PLAGL1

ME034

Multi-locus Imprinting

Various

ME043-Lynch Syndrome

Lynch syndrome

MHL1, MSH2, CDKN2A, BRAF V600E

P002-BRCA1

Hereditary breast cancer

17q21.31

P003-MLH1/MSH2

Hereditary nonpolyposis colon cancer (HNPCC)

MLH1 3p21.3, MSH2 2p22

P004-ERBB2

Cancer

ERBB2 (HER2-NEU)17q21.1

P008-PMS2

Hereditary nonpolyposis colon cancer (HNPCC)

PMS2 7p22

P010-POLG

Mitochondrial maintenance

POLG, POLG2, C10orf2 (PEO1), SLC25A4 (ANT1)

P011-VWF mix 1

Von Willebrand Disease(vWD)

vWF 12p13

P012-VWF mix 2

Von Willebrand Disease(vWD)

vWF 12p13

P013-ATRX

Alpha-Thalassemia MentalRetardation

ATRX ; Xq13

P014-Chromosome 8

Tumour research

Chromosome 8

P015-MECP2

RETT syndrome

MECP2, Xq28

P016-VHL

Von Hippel-LindauSyndrome

VHL, 3p25

P017-MEN1

Multiple endocrine neoplasia

MEN1 11q13

P018-SHOX

Idiopathic growth retardation

SHOX-Xp22

P020

P021-SMA

Spinal Muscular Atrophy(SMA)

SMN1, SMN2, 5q13

P022 -PLP1

Pelizaeus-Merzbacher disease (PMD)

PLP1 Xq22

P025-Canavan

Canavan disease

ASPA, 17p13

P026-Sotos

Sotos syndrome

NSD1, 5q35

P027-Uveal

Uveal Melanoma

1p, 3, 6p, 8q (MYC region)

P028-FHL

Familial lymphohistiocytosis(HLH)

UNC13D 17q25.1, PRF110q22.1, STX11 6q24.2

P029-WBS

Williams-Beuren syndrome

WBS criticial region 7q11.23

P031-FANCA mix 1

Fanconi Anemia (FA)

FANCA 16q24.3

P032-FANCA mix 2

Fanconi Anemia (FA)

FANCA 16q24.3

P033-CMT1

Charcot-Marie Tooth disease (CMT1), Hereditary Neuropathy with liability to Pressure Palsies (HNPP)

CMT1/HNPP region,17p11.2

P034-DMD-1

Duchenne MuscularDystrophy (DMD)

DMD, Xp21.2

P035-DMD-2

Duchenne MuscularDystrophy (DMD)

DMD, Xp21.2

P036-Human Telomere-3

Broad subtelomeric screening

All subtelomeres

P037-CLL-1

Chronic LymphocyticLeukemia (CLL)

Various

P038-CLL-2

Chronic LymphocyticLeukemia (CLL)

Various

P040-CLL

Chronic LymphocyticLeukemia (CLL)

Various

P041-ATM-1

Ataxia-Telangiectasia (AT)

ATM 11q23

P042-ATM-2

Ataxia-Telangiectasia (AT)

ATM 11q23

P043-APC

Hereditary Polyposis ColonCancer

APC, 5q21-q22

P044-NF2

Neurofibromatosis type 2 (NF2)

NF2 22q12

P045-BRCA2/CHEK2

Breast cancer, hereditary

BRCA2, CHEK2

P046-TSC2

Tuberous Sclerosis

TSC2 16p13.3

P047-RB1

Retinoblastoma (RB)

RB1 13q14

P048-LMNA/MYOT/ZMPSTE24

Laminopathies, Limb-girdle muscular dystrophy, Myofibrillar myopathies

LMNA 1q21.2-1q21.3

P049-SLC6A8 - ABCD1

Creatine transporter, x- linked

SLC6A8, Xq28

P050-CAH

Congenital AdrenalHyperplasia

CYP21A2 6p21.3

P051-Parkinson mix 1

Parkinson disease, familial

PARK2 6q25.2, SNCA4q21, Pink1, Park7 1p36

P052-Parkinson mix 2

Parkinson disease, familial

PARK2 6q25.2, UCHL1

P054-FOXL2-TWIST1

Ophthalmogenetic anomalies

FOXL2 , TWIST1, FOXC1, FOXC2, ATR, PITX2, GPR143

P055-PAH

Phenylketonuria

PAH 12q24.1

P056-TP53

Li-Fraumeni syndrome(LFS)

P53 17q13.1

P057-FANCD2-PALB2

Fanconi anemia (FA)

FANCD2. 3p25.3, PALB216p12

P058-IGHMBP2

Distal spinal muscular atrophy 1 (DSMA1), SMARD1, dHMN6

IGHMBP2 11q13

P059-Dystonia

Dystonia

P060-SMA

Spinal Muscular Atrophy(SMA)

SMN1, SMN2, 5q13

P061-Lissencephaly

Lissencephaly

LIS1, DCX, POMT1, POMGnT1, FLNA

P062-LDLR

Hypercholesterolemia, familial

LDLR 19p13.2

P064-MR-1

Mental Retardation; 1p- deletion, Williams, Smith- Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos

Various

P065-Marfan-1

Marfan syndrome

FBN1 15q21.1, TGFBR23p22

P066-Marfan-2

Marfan syndrome

FBN1 15q21.1

P067-PTCH

Gorlin syndrome

PTCH 9q22.3

P070-Human Telomere-5

Broad subtelomeric screening

All subtelomeres

P071-LMNB1-PLP1

Leukodystrophy

LMNB1 5q23.2, PLP1Xq22.2, NOTCH3 19p13.12

P072-MSH6

Hereditary nonpolyposis colon cancer (HNPCC)

MSH6

P074-AR

Androgen insensitivity syndrome (AIS)

AR Xq12

P073-IKBKG

Incontinentia Pigmenti

Xq28

P075-TCF4-FOXG1

Pitt-Hopkins syndrome, Congential variant of Rett syndrome

TCF4, FOXG1

P076-ACADVL-SLC22A5

VLCAD/Primary Carnitine

ACADVL, SLC22A5

P077-BRCA2

Breast cancer, hereditary

BRCA2

P078-Breast tumour

Breast tumour

various

P079-OTC

Ornithine cabamoyltransferase (OTC)

OTC Xp21.1

P080-Craniofacial

Craniofacial disorders

FGFRs, TWIST, MSX2, ALX4, RUNX2

P081-NF1 mix 1

Neurofibromatosis

NF1 17q11.2

P082-NF1 mix 2

Neurofibromatosis

NF1 17q11.2

P083-CDH1

CDH1 or E-cadherin

CDH1 16q22.1

P087-BRCA1

Breast cancer, hereditary

BRCA1

P088-Oligodendroglioma

Oligodendroglioma

1p, 19q

P089-TK2

mtDNA depletion syndrome

TK2, MPV17, DGUOK, RRM2B, SUCLA2, SUCLG1

P090-BRCA2

Breast cancer, hereditary

BRCA2 13q12.3

P091-CFTR

Cystic Fibrosis

CFTR 7q31.2

P092-ABCC6

Pseudoxanthoma elasticum

ABCC6 16p13.1

P093-HHT/PPH1

Hemorrhagic telangiectasia, hereditary (HHT), Primary pulmonary hypertension (PPH1)

ENG 9q34.1, ALK112q13.13, BMPR2 2q33.3

P094-MEFV

Mediterranean fever, familial(MEFV)

MEFV 16p13.3

P095-Aneuploidy

Down syndrome, Edwards syndrome, Patau syndrome

Chr. 13, 18, 21, X, Y

P096-MR-2

Mental retardation, Wolf- Hirschlorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki

Various

P098-Wilson

Wilson disease

ATP7B 13q14.3

P099-GCH1-TH-SGCE

Dopa-responsive dystonia, Segawa disease; Myoclonus-dystonia syndrome

TH 11p15.5, GCH114q22, SGCE 7q21

P100-MYBPC3

Hypertrophic cardiomyopathy, familial

MYBPC3 11p11.2

P101-STK11

Peutz-Jeghers syndrome(PJS)

STK11 19p13.3

P102-HBB

Thalassemia, beta-zero

HBB 11p15.5

P103-DPYD

Dihydropyrimidine dehydrogenase (DPYD) deficiency

DPYD 1p22

P104-Menkes ATP7A

Menkes disease

ATP7A Xq13.3

P105-Glioma-2

Glioma, malignant

EGFR, TP53, PTEN +various other

P106-MRX

Mental retardation, x-linked(XLMR)

Chromosome X

P107-Neurometabolic

Neurometabolic disorders

ASPA, MLC1, MLYCD, D2HGDH, L2HGDH

P108-SCN5A

Brugada / long QT

SCN5A 3p22

P109-ABCB4

Drug-transport pump

ABCB4 7q21,1

P110-FCGR mix 1

FCGR genes 1q23.3

FCGR genes 1q23.3

P111-FCGR mix 2

FCGR genes 1q23.3

FCGR genes 1q23.3

P112-PROS1

PROS1 deficiency

PROS1 3q11.2

P113-FANCB

Fanconi anemia complementation group B

FANCB Xp22

P114-Long-QT

Congenital long QTsyndrome (LQT)

KCNQ1 11p15.5, KCNH27q35

P116-SGC

Limb-girdle muscular dystrophy (LGMD)

SGCA, SGCB, SGCD, SGCG, FKRP

P117-ABCC8

Hyperinsulinemic hypoglycemia, familial (HHF1)

ABCC8 11p15.1

P118-WT1

Wilms tumours, WAGR, Denys-Drash, Frasier syndrome.

WT1 11p13

P120-PANK2/PLA2G6

Neurodegeneration with brain iron accumulation (NBIA)

PANK2 20q13, PLA2G622q13

P122-NF1-area

Neurofibromatosis

NF1 17q11.2

P124-TSC1

Tuberous Sclerosis

TSC1 9q34

P125-Mitochondria

Mitochondrial DNA (mtDNA)

Mitochondria

P128-CYP450

Cytochrome P-450

CYP2D6, CYP2C9, CYP2C19, CYP1B1,

P130-CCM mix-A

Cerebral CavernousMalformations (CCM)

CCM 7q21

P131-CCM mix-B

Cerebral CavernousMalformations (CCM)

CCM 7q21

P132-Kallmann-1

Kallmann syndrome, x- linked

KAL1 Xp22

P133-Kallmann-2

Kallmann syndrome

FGFR1 8p11.2, GNRHR8p21, KISSR1 19p13.3 , GNRH1, NELF 9q34.3

P136-Gitelman

Gitelman syndrome

SLC12A3 16q13

P137-SCN1A

Epilepsy

SCN1a 2q24.3

P138-SLC2A1

Glut1 deficiency syndrome

SLC2A1 1p34.2

P140-HBA

Thalassemias, Alpha

HBA 16p

P141-NIPBL-1

Cornelia de Lange syndrome (CDLS)

NIPBL 5q13.1

P142-NIPBL-2

Cornelia de Lange syndrome (CDLS)

NIPBL 5q13.1

P143-MFN2-MPZ

Charcot-Marie-Tooth disease (CMT2A/1B)

MFN2 1p36.2, MPZ 1q22

P147-1p36

1p36 deletion syndrome

1p36

P148-TGFBR1-TGFBR2

Aortic aneurysm syndrome

TGFBR1 9q22, TGFBR23p22

P149-CYP4V2

Crystalline Corneoretinal

CYP4V2

P151-ABCA4 mix-1

Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration

ABCA4 (ABCR) 1p22.1

P152-ABCA4 mix-2

Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration

ABCA4 (ABCR) 1p22.1

P153-EYA1

Branchio-oto-renal dysplasia syndrome (BOR)

EYA1 8q13.3.

P154-GPC3-GPC4

Simpson-Golabi-Behmel syndrome (SGBS)

GPC3, GPC4, Xq26

P155-EDS

The Ehlers-Danlos syndrome type III (EDS III)

COL3A1 2q31, TNXB6p21.3.

P156-GALT

Classic galactosemia

GALT 9p13

P158-JPS

Juvenile polyposis syndrome (JPS)

BMPR1A 10q22, SMAD418q21, PTEN

P159-GLA

Fabry Disease

GLA Xq22

P160-STS

Steroid Sulfatase gene(STS)

STS Xp22

P163-GJB-WFS1

Hearing loss

GJB 1p35.1 (connexin 31), WFS1 4p16.1 (Wolframin)

P164-IDS

Mucopolysaccharidosis typeII, or Hunter syndrome

IDS Xq28

P165-HSP

Spastic paraplegia, hereditary (HSP)

SPG3A 14q21, SPAST2p22

P166-KCNQ2

Benign familial neonatal convulsion (BFNC)

KCNQ2 20q13.33

P168-ARVC-PKP2

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)

DSP 6p24, PKP2 12q11.21

P169-Hirschsprung-1

Hirschsprung disease, orAganglionic Megacolon

RET 10q11.2, ZFHX1B2q22.3, EDN3 20q13.3 andGDNF 5q13.2

P170-APP

Alzheimer disease, early- onset

APP 21q21.3

P175-Tumour-Gain

Tumour-gain

various

P176-CAPN3

Limb girdle muscular dystrophy 2A (LGMD2A)

CAPN3 15q15.1

P177-CASR

HypocalciuricHypercalcemia, familial

CASR 3q13

P178-F8

Haemophilia A, x-linked

F8 gene, Xq28

P179-Limb-1

Limb malformations

GLI3 7p13, HOXD13 2q31, ROR2 9q22

P180-Limb-2

Limb malformations, heart

SALL1 16q12, SALL420q13, TBX5 12q24

P181-Centromere-1

Centromeric screening

Centromeres

P182-Centromere-2

Centromeric screening

Centromeres

P183-EDA

Ectodermal dysplasia, x- linked (XLHED)

EDA Xq12-q13.1

P184-JAG1

Alagille Syndrome (AGS)

JAG1 20p12.2

P185-Intersex

Sex determination

SOX9 17q24.3, NR5A19p33, WNT4 1p36.12, NROB1 Xp21.2

P186-PAX3-MITF-SOX10

Waardenburg syndrome(WS) type II, WS1, WS3

PAX3 2q35, MITF 3p14, SOX10 22q13.1

P187-HPE

Holoprosencephaly (HPE)

PTCH, SHH, ZIC2, SIX3,

P188-22q13

Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3

22q13.3, SHANK3, ACR, RABL2B

P189-CDKL5

Rett syndrome, atypical

CDKL5 Xp22, NTNG11p13.3, ARX Xp22.1

P190-CHEK2

Breast cancer susceptibility

CHEK2 22q12, ATM , PTEN, TP53

P191-Alport-mix1

Alport syndrome, HereditaryNephritis

COL4A5 Xq22

P192-Alport-mix2

Alport syndrome, HereditaryNephritis

COL4A5 Xq22

P193-NPC1

Niemann-Pick type Cdisease (NPC)

NPC1, NPC2

P196-TNNT2-BAG3

Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy

TNNT2 1q32

P197-KCNQ3

Neonatal convulsions type2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)

KCNQ3 8q24.22

P198-FH

Fumarase deficiency (FH)

FH

P199-HEXA

Tay-Sachs Disease

HEXA 15q23

P200-Reference-1

Synthetic 'home-made' probes

Reference probes + control fragments

P201-Charge

Charge syndrome

CHD7 8q12.2

P202-IKZF1 (IKAROS)

Acute lymphoplastic leukemia (ALL), CML

IKZF1 7p12.2

P203-PKLR

Haemolytic Anaemia, hereditary non-spherocytic

PKLR 1q22

P205-XLP

Lymphoproliferative syndrome, x-linked (XLP). Duncan disease

SH2D1A Xq25

P207-F9

Factor IX deficiency, Christmas disease

F9 Xq27.1

P208-Human Telomere-6

Subtelomeric screening

2p, 3p, 6p, 8p

P209-GLDC

Glycine encephalopathy

GLDC 9p22

P210-BTK

Agammaglobulinemia

BTK Xq22.1

P211-HSP region

Hereditary SpasticParaplegias (HSPs) region

SPAST 2p22, NIPA1 15q11

P212-DBA

Diamond-Blackfan anemia(DBA)

RPS19 19q13.2, 8p23

P213-HSP2

Hereditary spastic paraplegias (HSPs)

REEP1 (SPG31) 2p11.2, SPG7 16q24.3

P214-COL2A1

Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer- Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepimetaphyseal

COL2A1 12q13.11-q13.2

P215-EXT

Multiple Osteochondromas

EXT1 8q24, EXT2 11p12

P216-GHD mix1

Growth Hormone Deficiency(GHD)

GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3

P217-IGF1R

Insulin-like growth factor 1 receptor (IGF1R)

IGFR1, IGFBP3.

P218-LPL

LPL deficiency

LPL 8p21.3

P219-PAX6

Ocular malformations, hereditary

PAX6 11p13, SOX2 3q26, WT1, 11p13

P220-Obesity

Obesity

LEPR, POMC, LEP, SIM1, MC3R, MC4R

P221-LCA mix-1

Leber congenital amaurosis(LCA)

AIPL1 17p13, CRB1 1q31, CRX 19q13, RPE65 1p31

P222-LCA mix-2

Leber congenital amaurosis(LCA)

GUCY2D 17p13.1, RDH1214q24, RPGRIP1 14q11, CEP290 12q21

P223-PHEX

Hypophosphatemia, x-linked

PHEX Xp22.2, FGF2312p13

P224-PPARG

Obesity, Diabetes mellitis type II, Familial partial lipodystrophy III, Colon cancer

PPARG 3p25.1

P225-PTEN

Cancer

PTEN 10q23

P226-SDH

Paragangliomas (PGL)

SDHD 11q23.1, SDHB1p36.1, SDHC 1q23.3

P227-SerpinC1

Antithrombin (III) deficiency

SerpinC1 1q25.1

P228-TRPS1-EXT1

Trichorhinophalangeal syndrome type I (TRPS1), Langer-Giedion syndrome (LGS)

TRPS1, EXT1, 8q24

P229-OPA1

Macular dystrophy

OPA1 3q28, VMD2 11q13, RDS 6p21.2

P231-FGF10-FGFR2

Autosomal dominant lacrimoauriculodentodigital (LADD)

FGF10 5p13, FGFR2 10q26

P232-FGD1

Faciogenital dysplasia (FGDY), Aarskog-Scott syndrome

FGD1 Xp11.21

P233-MID1

OPITZ syndrome

MID1 Xp22

P234-GATA4

Cardiac septal defects

GATA4 8p23, GATA310p15

P235-Retinitis

Retinitis Pigmentosa

RHO 3q21.3, RP1 8q11.2, IMPDH1 7q32, PRPF3119q13.4

P236-ARMD mix-1

Age-related macular degeneration (ARMD)

CFH, CFHR3, CFHR1, CFHR2, 1q23

P238-DNAH5

Primary ciliary dyskinesia(PCD)

DNAH5 5p15

P239-BRCA1 region

Breast cancer

BRCA1 region

P240-BRIP1/CHEK1

Cancer

BRIP1 17q22, CHEK111q22

P241-MODY

Maturity-Onset Diabetes of the Young (MODY)

MODY 1, 2, 3; 5

P242-Pancreatitis

Hereditary Pancreatitis (HP)

PRSS1 7q34, SPINK1 5q32

P243-SERPING1

Hereditary angioedema(HAE)

SERPING1 11q12.1

P244-AIP-MEN1

Multiple endocrine neoplasia (MEN)

AIP 11q13, MEN1 11q13

P245-Microdeletion-1

Microdeletion syndromes

Various

P247-Chemokine-2

Chemokines

CXCR4, CX3CR1, CCR5, CCR2, CD4, CD209

P248-MLH1-MSH2

Colon cancer, hereditary non-polyposis (HNPCC)

MLH1 3p21.3, MSH2 2p21

P249-Human Telomere-8

Subtelomeric screening

17p, 18p, 19p, 20p

P250-DiGeorge

DiGeorge syndrome

22q11

P251-NB mix 1

Neuroblastoma

1p36, 3p22/3p21.3 and11q23

P252-NB mix 2

Neuroblastoma

2p24.1/MYCN, 2q33,17p13/TP53, 17q

P253-NB mix 3

Neuroblastoma

Chromosomes 4, 7, 9, 12,14

P254-PSEN1

Alzheimer's disease (AD)

PSEN1 14q24.2

P255-ALDOB

Fructose intolerance

ALDOB 9q21

P256-FLCN

Birt-Hogg-Dube syndrome

FLCN 17p11, Smith- Magenis syndrome region

P257-TERT-DKC1

Dyskeratosis congenita(DC)

DKC1 Xq28

P258-SMARCB1

Rhabdoid tumors

SMARCB1 22q11.2

P259-RPS6KA3

Coffin-Lowry Syndrome(CLS)

RPS6KA3, PQBP1.

P260-PALB2-RAD50-RAD51C

Fanconi Anemia

RAD50

P262-GHI

Growth HormoneInsensitivity (GHI)

GHR 5p12, JAK2 9q24.1, IGF1 12q23, STAT5B17q21

P264-Human Telomere-9

Subtelomeric screening

1q, 2q, 3q, 4q

P266-CLCNKB

Bartter syndrome

CLCNKB 1p36

P267-Dandy-Walker

Dandy-Walker Malformation(DWM)

ZIC1, ZIC4 3p2, VLDLR9p24

P268-DYSF

Limb girdle muscular dystrophies (LGMD)

DYSF 2p13

P269-FRMD7

Congenital nystagmus

Xq26 (NYS1 locus), FRMD7

P271-COL1A1

Osteogenesis imperfecta(OI)

COL1A1 17q21.3

P272-COL1A2

Osteogenesis imperfecta(OI)

COL1A2 7q21.3

P274-SLC6A5/GLRA1/GLRB

Startle disease, Hyperekplexia

GLRB 4q32.1, GLRA15q33.1, SLC6A5 11p15.1

P275-MAPT-GRN

Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy

MAPT 17q21

P277-Human Telomere-10

Subtelomeric screening

5q, 6q, 7q, 8q

P278-PCCA

Propionic acidemia

PCCA 13q32

P279-CACNA1A

Episodic ataxia 2, Familial hemiplegic migraine

CACNA1A

P280-SLC26A4

Pendred syndrome

SLC26A4 7q31

P285-LRP5

Osteopoprosis- pseudoglioma syndrome (OPPS)

LRP5 11q13.4, DKK110q11.2

P286-Human Telomere-11

Subtelomeric screening

9q, 10q, 11q, 12q

P289-LMX1B

Nail patella syndrome (NPS)

LMX1B 9q33

P292-PCDH15

Usher syndrome

PCDH15 10q21.1

P294-Tumour-Loss

Tumour-Loss

various

P295-SPRED1

SPRED1

SPRED1 15q14

P296-aHUS

Hemolytic uremic syndrome, typical (aHUS)

CFH 4q25

P297-Microdeletion-2

Microdeletion syndromes

Various

P300-Reference-2

Synthetic 'home-made' probes

Reference probes + control fragments

P301-Medulloblastoma mix 1

Medulloblastoma

Chr. 6, Chr. 14, Chr. 16, Chr. 17.

P302-Medulloblastoma mix 2

Medulloblastoma

Chr. 2, Chr. 3, Chr. 7, Chr. 9

P303-Medulloblastoma mix 3

Medulloblastoma

Chr. 1, Chr. 4, Chr. 5, Chr.8, Chr. 10, Chr. 20

P304-IRF6

Van der Woude syndrome(VWS)

IRF6 1q32.2

P305-AGXT

Primary hyperoxaluria, type1 (PH1) & type 2 (PH2)

AGXT, GRHPR

P306-SPG11

Hereditary spastic paraplegia (HSP or SPG)

SPG11 or KIAA184015q21.1

P307-SEPT9

Hereditary neuralgic amyotrophy (HNA)

SEPT9 17q25.3

P309-MTM1

Myotubular myopathy, x- linked (XLMTM)

MTM1 Xq28, MTMR1 Xq28

P310-TCOF1

Treacher Collins- Franceschetti 1

TCOF1

P311-CHD

Congenital Heart Disease(CHD)

GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25

P312-POR

Congenital adrenal hyperplasia (CAH)

P450 oxireductase gene(POR)

P313-CREBBP

Rubinstein-Taybi syndrome(RSTS)

CREBBP 16p13.3

P315-EGFR

Tumours, solid

EGFR 7p11

P316-Ataxias

Recessive Ataxias

SETX, APTX, FXN.

P318-Hirschsprung-2

Hirschsprung disease

PHOX2B, GFRA3, GFRA2, GFRA1, EDNRB, NRTN, PSPN, SOX10

P320-Human Telomere-13

Subtelomeric screening

17q, 18q, 19q, 20q.

P321-VPS13B mix 1

Cohen syndrome

VPS13B 8q22

P322-VPS13B mix 2

Cohen syndrome

VPS13B 8q22

P323-CDK4-HMGA2-MDM2

Sarcoma and other tumour types

chromosome 12, MDM2, CDK4 and HMGA2 genes

P324-22q11 mix-2

22q11

22q11

P325-OCA2

oculocutaneous albinism

OCA2 15q13

P326-LARGE

Walker-Warburg Syndrome

LARGE, FKTN, POMT2

P327-iAMP21

ALL, iAMP21, ERG

iAMP21, RUNX1, ERG

P328-EYS

Retinitis Pigmentosa

EYS 6q12

P329-CRLF2

ALL

Xp22.33

P330-PCDH19

Epilepsy (EFMR)

PCDH1

P331-COL5A1 MIX-1

Ehlers-Danlos Syndrome

COL5A1 9q34.3

P332-COL5A1 MIX-2

Ehlers-Danlos Syndrome

COL5A1 9q34.3

P333-EP300

Rubinstein-Taybi syndrome(RSTS)

EP300

P334-Gonadal

Gonadal DevelopmentDisorder

DMRT1, CYP17A1, SRD5A2, HSD17B3

P335-ALL-IKZF1

ALL

IKZF1, PAX5, ETV6, RB1, BTG1, EBF1, CDKN2A- CDKN2B, Xp22.33

P336-UBE3A

Angelman

UBE3A, MTHFR, GABRB3, AXIN1

P337-TSC2

Tuberous sclerosis

TSC2 gene, 16p13.3

P339-SHANK3

Autism Spectrum Disorder

SHANK3 22q13.33

P340-EHMT1

9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome.

EHMT1

P341-PKHD1 mix 1

Polycystic kidney disease, autosomal recessive (ARPKD)

PKHD1

P342-PKHD1 mix 2

Polycystic kidney disease, autosomal recessive (ARPKD)

PKHD1

P343-Autism-1

Autism

15q11-13: UBE3A, GABRB3; 16p11; SHANK322q13

P348-ATP1A2-CACNA1A

Migraine

1q23

P350-CLCN1-KCNJ2

Myotonia congenita, Thomsen's disease, Becker's disease, Andersen-Tawil syndrome

CLCN1, KCNJ2

P351-PKD1

Adult polycystic kidney disease

PKD1

P352-PKD1-PKD2

Adult Polycystic Kidney

PKD1, PKD2

P353-CMT4

autosomal recessive demyelinating form

SH3TC2; NEFL; GDAP1; EGR2; SBF2; MTMR2; PRX

P354-KIT SNAI2

Piebaldism/KIT

P355-Microcephaly

Primary Microcephaly

MCPH1, ASPM,

P356-Chromosome 22q

Subtelomeric screening

22q11, 22q13

P357-MODY mix-2

Maturity-Onset Diabetes of the Young (MODY)

MODY 4; 6-10

P359-PLOD1

Ehlers Danlos syndrome type VI

1p36.22

P360-Y-Chromosome

Y-ChromosomeMicrodeletions

Chromosome Y

P361-USH2A mix 1

Usher syndrome

USH2A 1q41

P362-USH2A mix 2

Usher syndrome

USH2A 1q41

P365-Human Telomere-14

Subtelomeric screening

7p, 15q-cen, 16p, 21q-cen,21q

P366-CHM-RP2-RPGR

Retinitis pigmentosa (RP)

CHM-RP2-RPGR

P367-BEST1-PRPH2

Macular Dystrophy, Vitelliform

BEST1 (=VDM2), PRPH2 (=RDS)

P368-DCLRE1C

SCID and Omenn syndrome

10p13; DCLRE1C

P369-Smith-Magenis

Smith-Magenis syndrome

17p11.2

P370-BRAF-IDH1-IDH2

Gliomas

BRAF, IDH1, IDH2

P371-Microdeletion-5

Microdeletion follow-up

2p16, Langer Giedion,9q22, WAGR, 15q24, 17q21

P372-Microdeletion-6

Microdeletion follow-up

Sotos, DiGeorge, Rubinstein-Taybi, NF1

P373-Microdeletion-7

Microdeletion follow-up

1p36, 3q29, Wolf- Hirschlorn, Cri du Chat, Phelan-McDermid

P374-Microdeletion-8

Microdeletion follow-up

7q11, PWS/AS, Miller- Dieker, Smith-Magenis, RETT

P376-BRCA1ness

BRCA1-like breast cancer profile

various

P377-Hematologic malign.

Hematological malignancies, various

various

P378-MUTYH

Colon cancer, stomach cancer (hereditary)

1p34 and 15q13

P379-NRXN1

Pitt-Hopkins-like syndrome2

NRXN1

P381-COL11A1 mix 1

Marshall, type II Stickler syndromes

COL11A1

P382-COL11A1 mix 2

Marshall, type II Stickler syndromes

COL11A1

P385-DOCK8

HIES

9p24.3

P386-DOCK8 STAT3

HIES

17q21.2, 9p24.3

P387-NPHP1

Familial juvenile nephronophthisis

NPHP1 2q13

P389-MLL2

Kabuki syndrome

MLL2 gene

P391-LAMA2 mix1

CMD, Merosin-deficient

6q22.33

P392-LAMA2 mix2

CMD, Merosin-deficient

6q22.33

P394-MYO5B

Microvillus InclusionDisease (MVID)

MYO5B 18q21.1

P395-MEF2C-FOXG1

mental retardation

MEF2C 5q14.3, FOXG114q12

P396-SHANK2

Autism-spectrum disorder

SHANK2 11q13.3

P397-SCN4A-CACNA1S

nondystrophic myotonias and primary periodic paralyses

CACNA1S, SCN4A

P398-CASK

X-linked mental retardation and MICPCH

CASK

P405-CMT1

Charcot Marie ToothDisease

CMT/HNPP region at 17p12

P408-ADLTE-LGI1

Autosomal Dominant Lateral Temporal Lobe Epilepsy, ADLTE

ADAM22, GPR98, KCNA1, KCNA4, KCNAB1, LGI1, PDYN

P409-RASA1

capillary malformations, Parkes Weber syndrome

RASA1 5q14.3

P410-GRIN2A GRIN2B

epilepsy, mental retardation

16p13.2 GRIN2A, 12p13.1GRIN2B

P411-Porphyria mix 1

Porphyrias

ALAD, HMBS, PPOX

P412-Porphyria mix 2

Porphyrias

FECH, UROS, UROD, CPOX

P413-CRC LOSS

Colorectal adenoma/carcinoma

8p, 15q, 17p, 18q

P414-MDS

Myelodysplastic syndromes

3, 5q,7q, 8q, 11q, 12p, 17, 19, 20q, Y

P417-BAP1

Melanocytic tumours, mesothelioma

3p21.1

P418-MYH7

Hypertrophic cardiomyopathy

MYH7 14q11.2

P419-CDKN2A/2B-CDK4

Familial melanoma

CDKN2A, CDKN2B, CDK4, MITF E318K

P425-MM

Multiple myeloma

various

P426-Cystinuria

Cystinuria and hypotonia-cystinuria syndrome

SLC3A1, PREPL, SLC7A9

P431-FOXF1

Alveolar capillary dysplasia with Misalignment of pulmonary veins and Feingold syndrome

FOXF1

P436-ANO5

Muscular dystrophy type 2L or Anoctaminopathy

ANO5

P437-MDS-AML

Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia

GATA2, TERC, TERT, CEBPA, RUNX1

P444-COL4A4

Alport syndrome or Hereditary nephritis

COL4A4

P446-GALC

Krabbe disease

GALC 14q31.3

P452-PLS3

X-linked osteoporosis

PLS3 Xq23

P457-DHCR7

Smith-Lemli-Opitz syndrome (SLOS)

DHCR7

P461-DIS

Deafness-infertility syndrome, Autosomal recessive deafness 16 and Autosomal recessive deafness 22

STRC, CATSPER2, OTOA

P466-CDC73

Familial primary hyperparathyroidism

CDC73

P482-DICER1

DICER1 syndrome

DICER1

P484-ALPL

Hypophosphatasia

ALPL

X080 Opsin

Cone photoreceptor disorders

OPN1MW