MLPA® Kits

For a description how to create and adapt MLPA Kits, that are not available on this page, please have a look at our User Manual MLPA.

Import of SALSA MLPA® kit descriptions via the SEQUENCE Pilot operation "Mixes [master file] / button [Import]".

Mix
Version
Date
Region
Application
P440-A1 Vs. 01 03-02-2014 F10-F11 Factor X deficiency and Factor XI deficiency (Rosenthal syndrome)
Vs. 01 19-07-2013 3q12.12 ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay)
Vs. 01 14-03-2014 17q21.31 KANSL1 copy number
Vs. 01 17-08-2015 2q36.3 Alport Syndrome
Vs. 01 28-02-2014 Xp11.3 Kabuki Syndrome Type 2 (KS2)
Vs. 02 31-08-2015 Xp11.3 Kabuki Syndrome Type 2 (KS2)
Vs. 01 17-07-2014 14q31.3 Krabbe Disease
Vs. 01 02-04-2014 Xq26.1 Lesch-Nyhan syndrome
P452-A1 Vs. 01 23-06-2014 PLS3 X-linked osteoporosis and fractures, osteogenesis imperfecta type I
Vs. 01 16-09-2014 17q25.3 Pompe Disease
Vs. 02 07-01-2016 17q25.3 Pompe Disease
Vs. 04 18-07-2017 17q25.3 Pompe Disease
Vs. 01 29-07-2016 Xp21.1; 1q25.3; 16q24.3; 22q13.1 Chronic Granulomatous Disease
Vs. 01 05-02-2015 22q11.21 Schwannomatosis
P456-A1 Vs 01 06-07-2015 EVC/EVC2 Ellis-van Creveld syndrome
Vs. 01 19-11-2014 11q13 Smith–Lemli–Opitz syndrome
Vs. 05 16-01-2015 various Gastric Cancer
P459-A1 Vs. 01 06-10-2015 14q32.13 Alpha-1-antitrypsin (AAT)-deficiency
Vs. 03 16-07-2015 5q13.2 Spinal muscular Athrophy
Vs. 04 23-10-2015 5q13.2 Spinal muscular Athrophy
Vs. 01 13-09-2016 15q15.3; 16p12.2 Deafness Infertility Syndrome (DIS); non-syndromic hearing loss
Vs. 02 15-06-2017 15q15.3; 16p12.2 Deafness Infertility Syndrome (DIS); non-syndromic hearing loss
Vs. 01 08-08-2016 16p11.2; 17q12; 22q11.21 Mayer-Rokitansky-Küster-Hauser Syndrome
Vs. 01 07-10-2015 01p31.1 Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Vs. 01 28-04-2015 CDC73 HPT jaw tumour syndrome, famial hyperparathyroidism, parathyroid carcinoma
Vs. 01 13-01-2017 F5 1q24.2 Factor V deficiency
Vs. 01 06-04-2016 01p34.2, 08p23.3, 11p15.4, 15q23, 16p11.2 Neuronal Ceroid Lipofuscinoses/Batten Disease
Vs. 01 04-03-2016 01q42.13; 14q24.2; 21q21.3 Early-Onset Familial Alzheimer's Disease (EOFAD)
Vs. 02 15-02-2017 01q42.13; 14q24.2; 21q21.3 Early-Onset Familial Alzheimer's Disease (EOFAD)
Vs. 01 17-03-2017 10q24.32 Familial Medulloblastoma and Meningioma
Vs. 01 08-12-2016 17p13.2 (Nephropathic) Cystinosis
Vs. 01 20-09-2017 FOXP1 3p14.1; FOXP2 7q31.1 mental retardation