SoftGenetics - Software PowerTools for Genetic Analysis
 
       

 

Panel Downloads

Revision: 4/2014

 

Commonly requested panels are listed below, by kit name. If the panel is not in the list, please contact tech_support@softgenetics.com. Many commonly used panels are also available in the Panel Editor of GeneMarker -- Tools - Panel Editor - File - Import Pre-defined Panels - MLPA folder.

 

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MLPA mix
Known Syndrome / Disease
Chromosomal Area / Genes
Panel Request
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
ME024-9p21
Tumours, Cutaneous melanoma
9p21, CDKN2A, CDKNA2B
ME028-PWS/AS
Prader Willi syndrome (PWS), Angelman syndrome (AS)
PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2
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
ME042-CIMP
CpG Island MethylatorPhenotype
ME043-Lynch Syndrome
Lynch syndrome
MHL1, MSH2, CDKN2A, BRAF V600E
ME046-Repair
Repair genes
Various
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
P068-HMGCS2
Mitochondrial 3-hydroxy-3- methylglutaryl-CoA synthase (mHMGS)
HMGSC2 1p13
P069-Human Telomere-4
Broad subtelomeric screening
All subtelomeres
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
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,
P129-GJB1
Charcot Marie Tooth disease, x-linked
GJB1 Xq13.1
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
P139-Defensin
Defensin
DEF, 8q22, 8q23,
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
P144-MDS mix 1
Myelodysplastic syndrome(MDS)
Chr. 5, 7, 8, 11, 12, 17, 20,21
P145-MDS mix 2
Myelodysplastic syndrome(MDS)
Chr. 5, 7, 8, 11, 12, 17, 20,21
P147-1p36
1p36 deletion syndrome
1p36
P148-TGFBR1-TGFBR2
Aortic aneurysm syndrome
TGFBR1 9q22, TGFBR23p22
P149-CYP4V2
Crystalline Corneoretinal
CYP4V2
P150-Dyslexia
Dyslexia
DCDC2 6p22, ROBO13q12, ROBO2 3q12, NRSN1 6p22
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
P157-20q region
Colon cancer, breast cancer and various others
20q (BCL2L1, MYBL2, ZNF217, DNMT3B, AURKA, GNAS)
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
P173-Gain-3
Tumours
various genes
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
P194-MCCC
3-methylcrotonylglycinuria Iand II
MCCC1 3q27, MCCC25q12
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
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
P230-Human Telomere-7
Subtelomeric screening
9p, 10p, 11p, 12p
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
P237-DNAI1
Primary ciliary dyskinesia(PCD)
DNAI1 9p21
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
P265-PROC
Protein C deficiency(PROC)
PROC 2q14.3
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
P273-PCSK5
Atherosclerotic cardiovascular disease (risk of)
9q21.3
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
P281-RYR1 mix 1
Malignant Hyperthermia(MH)
RYR1
P282-RYR1 mix 2
Malignant Hyperthermia(MH)
RYR1
P283-TPMT
Thiopurine S- methyltransferase (TPMT; S-adenosyl-L- methionine:thiopurine S- methyltransferase)
TPMT 6p22, DPYD 1p22
P284-RBM14-11q13
Tumour analysis
RBM14, 11q13
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
P290-Prenatal
Prenatal microdeletion screening
Various
P291-Human Telomere-12
Subtelomeric screening
13q, 14q, 15q, 16q
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
P299-NOS
Neurodegenerative diseases
NOS1 12q24
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
P319-Thyroid
Thyroid dysgenesis
TPO, PAX8, FOXE1, NKX2-1, TSHR
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
P347-Hemochromatosis
Hereditary hemochromatosis (HH)
HFE, SLC40A1, TFR2, HFE2, HAMP
P348-ATP1A2-CACNA1A
Migraine
1q23
P349-DPP6-CRKL
DPP6, CRKL
DPP6, CRKL
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
P358-Human Telomere-15
Subtelomeric screening
4p, 5p telomeres and13q,14q centromere regions
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
P384-Human Height
Human Height
IHH, HHIP, NPPC, HMGA2, ADAMTSL3
P385-DOCK8
HIES
9p24.3
P386-DOCK8 STAT3
HIES
17q21.2, 9p24.3
P387-NPHP1
Familial juvenile nephronophthisis
NPHP1 2q13
P388-AGS
Aicardi-Goutieres Syndrome
RNASEH2A, B & C genes, TREX1, SAMHD1
P389-MLL2
Kabuki syndrome
MLL2 gene
P390-TBX4 -17q23
Small Patella Syndrome
TBX4, TBX2, 17q23.1-q23.2
P391-LAMA2 mix1
CMD, Merosin-deficient
6q22.33
P392-LAMA2 mix2
CMD, Merosin-deficient
6q22.33
P393-SLC26A3
Congenital ChlorideDiarrhoea
SLC26A3 7q31.1
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
P401-Blood group mix 1
Blood group genotyping
RHCE, RHD, SLC4A1
P402-Blood group mix 2
Blood group genotyping
RHD, RHCE, ART4, GYPB, KEL, SLC4A1.
P403-Blood group mix 3
Blood group genotyping
RHD, ART4, DARC, GYPB, GYPC,
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
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
P424-CHD associated loci
Congenital Heart Disease
25 different regions
P427-PDHA1
Leigh Syndrome
X-chromosome
PM200-Mouse ref.
Synthetic 'home-made' probes
Mouse reference probes +control fragments
R011-Apoptosis
Apoptosis mRNA
Various
RM001-Mouse Inflammation
Mouse Inflammation RNA
RNA; mRNA expression
RM002-Apoptosis
Mouse apoptosis mRNA
Various

 

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