MLPAs

At LabGenetics we perform copy number variation studies using the MLPA (Multiplex Ligation-dependent Probe Amplification) technique to analyze the presence of deletions and duplications in certain genes. We also perform methylation status analysis by MS-MLPA (Methylation-Specific Multiplex Ligation-dependent Probe Amplification) in regions of the genome subject to imprinting and whose alteration is associated with different pathologies.

MLPAs we perform:

Bone/Dental Diseases And Malformations

Postaxial Polydactyly Types A/B:

Mlpa Analysis Of Deletions In Gli3
Pseudohypoparathyroidism / Pseudopseudohypoparathyroidism:

Methylation Analysis Of The 20Q13.3 Region (Gnas)
Syndactyly Type 4:

Mlpa Analysis Of Duplications In Shh
Aarskog Syndrome (Faciodigitogenital Syndrome Or Faciogenital Dysplasia):

Mlpa Analysis Of Deletions/Duplications In Fgd1
Antley-Bixler Syndrome:

Mlpa Analysis Of Deletions/Duplications In Por
Axenfeld-Rieger Syndrome (Rieger Disease):

Mlpa Analysis Of Deletions/Duplications In Pitx2 And Foxc1
Greig Cephalopolysyndactyly Syndrome:

Mlpa Analysis Of Deletions In Gli3
Holt-Oram Syndrome:

Mlpa Analysis Of Deletions/Duplications In Tbx5
Leri-Weill Syndrome:

Mlpa Analysis Of Deletions/Duplications In Shox
Okihiro Syndrome:

Mlpa Analysis Of Deletions In Sall4
Pallister-Hall Syndrome:

Mlpa Analysis Of Deletions/Duplications In Gli3
Pfeiffer Syndrome:

Mlpa Analysis Of Deletions In Ror2
Saethre-Chotzen Syndrome:

Mlpa Analysis Of The Complete Deletion Of Twist1
Treacher Collins Syndrome:

Mlpa Analysis Of Deletions/Duplications In Tcof1
Achondrogenesis Type 2:

Mlpa Analysis Of Deletions/Duplications In Col2A1
Craniosynostosis:

Mlpa Analysis Of Deletions/Duplications In Fgfr1, Fgfr2 And Fgfr3
Cleidocranial Dysplasia (Dysostosis):

Mlpa Analysis Of Deletions/Duplications In Runx2
Campomelic Dysplasia:

Mlpa Analysis Of Deletions/Duplications In Sox9
Craniofrontonasal Dysplasia:

Mlpa Analysis Of Deletions/Duplications In Efnb1
Kniest Dysplasia:

Mlpa Analysis Of Deletions/Duplications In Col2A1
Spondyloepiphyseal Dysplasia, Congenital:

Mlpa Analysis Of Deletions/Duplications In Col2A1
Frontonasal Dysplasia:

Mlpa Analysis Of Deletions/Duplications In Alx1, Alx3 And Alx4
Short Stature (Idiopathic Short Stature):

Mlpa Analysis Of Deletions/Duplications In Shox
Multiple Exostoses (Multiple Osteochondromas):

Mlpa Analysis Of Deletions In Ext1 And Ext2
Hypophosphatasia:

Mlpa Analysis Of Deletions/Duplications In Alpl
Primary Microcephaly, Autosomal Recessive (Vera Microcephaly):

Mlpa Analysis Of Deletions/Duplications In Mcph1, Mcph2 (Wdr62), Mcph3 (Cdk5Rap2), Mcph5 (Aspm), Mcph6 (Cenpj), And Mcph7 (Stil)
Albright’S Hereditary Osteodystrophy:

Methylation Analysis Of The 20Q13.3 Region (Gnas)
Osteogenesis Imperfecta, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Col1A1
Osteogenesis Imperfecta, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Col1A2
Osteopathia Striata With Cranial Sclerosis (Oscs), X-Linked:

Mlpa Analysis Of Deletions In Amer1 (Fam123B)

Cardiovascular Diseases

Dermatological Diseases

Waardenburg Syndrome Types 1 And 3:

Mlpa Analysis Of Deletions/Duplications In: Pax3 And Mitf
Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Syndrome):

Mlpa Analysis Of Deletions/Duplications In: Eng And Acvrl1
Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Syndrome):

Mlpa Analysis Of Deletions/Duplications In Smad4
Epidermolysis Bullosa Dystrophica / Pruriginosa:

Mlpa Analysis Of Deletions/Duplications In Col7A1
Tuberous Sclerosis:

Mlpa Analysis Of Deletions/Duplications In Tsc1
Tuberous Sclerosis:

Mlpa Analysis Of Deletions/Duplications In Tsc2
Ichthyosis (X-Linked):

Mlpa Analysis Of Deletions/Duplications In Sts
Neurofibromatosis Type 1:

Mlpa Analysis Of Deletions In Nf1
Neurofibromatosis 1-Like Syndrome (Legius Syndrome):

Mlpa Analysis Of Deletions/Duplications In Spred1
Neurofibromatosis Type 2:

Mlpa Analysis Of Deletions In Nf2
Pseudoxanthoma Elasticum (Pxe):

Mlpa Analysis Of Deletions/Duplications In Abcc6
Clouston Syndrome:

Mlpa Analysis Of Deletions/Duplications In Gjb6
Ehlers-Danlos Syndrome, Classic, Types 1 And 2:

Mlpa Analysis Of Deletions/Duplications In Col5A1
Ehlers-Danlos Syndrome, Arthrocalasia Type, 7A And 7B:

Mlpa Analysis Of Deletions/Duplications In Col1A1
Ehlers-Danlos Syndrome, Arthrocalasia Type, 7A And 7B:

Mlpa Analysis Of Deletions/Duplications In Col1A2
Ehlers-Danlos Syndrome, Kyphoscoliotic, Type 6:

Mlpa Analysis Of Deletions/Duplications In Plod1
Ehlers-Danlos Syndrome, Articular Hypermobility Syndrome, Type 3:

Mlpa Analysis Of Deletions/Duplications In Col3A1 And Tnxb
Ehlers-Danlos Syndrome, Vascular, Type 4:

Mlpa Analysis Of Deletions/Duplications In Col3A1 And Tnxb
Hyper-Ige Syndrome, Autosomal Recessive:

Mlpa Analysis Of Deletions/Duplications In Dock8
Pitt-Hopkins Syndrome:

Mlpa Analysis Of Deletions/Duplications In Tcf4
Pitt-Hopkins-Like Syndrome:

Mlpa Analysis Of Deletions/Duplications In Nrxn1
Waardenburg Syndrome Type 2:

Mlpa Analysis Of Deletions/Duplications Inmitf
Waardenburg Syndrome Type 2:

Mlpa Analysis Of Deletions/Duplications Insnai2
Albinism, Oculocutaneous (Oca):

Mlpa Analysis Of Deletions/Duplications In Tyr And Oca2
Hydrotic Ectodermal Dysplasia:

Mlpa Analysis Of Deletions/Duplications In Gjb6
Hypohidrotic/Anhidrotic Ectodermal Dysplasia:

Mlpa Analysis Of Deletions/Duplications In Eda, Edar And Edaradd
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency:

Mlpa Analysis Of Exons 4-10 Deletion Of Ikbkg

Digestive System Disease

Endocrine Diseases

Kallmann Syndrome Type 2:

Mlpa Analysis Of Deletions/Duplications In Fgfr1 (Kal2)
Kallmann Syndrome Type 5:

Mlpa Analysis Of Deletions/Duplications In Chd7
Chronic Pancreatitis:

Mlpa Analysis Of Deletions/Duplications In Prss1, Spink1, Ctrc
Acromegaly:

Mlpa Analysis Of Deletions/Duplications In Aip
17-Beta-Hydroxysteroid Dehydrogenase Deficiency (Pseudohermafroditism):

Mlpa Analysis Of Deletions/Duplications In Cyp17A1
Growth Hormone Deficiency (Pituitary Dwarfism):

Mlpa Analysis Of Deletions/Duplications In Gh1
Maturity-Onset Diabetes Of The Young (Mody) Types 1-10:

Mlpa Analysis Of Deletions/Duplications In Hnf4A, Gck, Hnf1A And Hnf1B
Maturity-Onset Diabetes Of The Young (Mody) Types 1-10:

Mlpa Analysis Of Deletions/Duplications Inpdx1, Hnf1B, Neurod1, Klf11, Cel, Pax4 And Ins
Familial Hypocalciuric Hypercalcemia Type 1:

Mlpa Analysis Of Deletions/Duplications In El Gen Casr
Hyperparathyroidism, Primary:

Mlpa Analysis Of Deletions/Duplications In Casr
Hyperparathyroidism, Primary:

Mlpa Analysis Of Deletions/Duplications In Men1
Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency):

Mlpa Analysis Of Deletions/Duplications In Cyp21A2
Hypocalcemia (Autosomal Dominant):

Mlpa Analysis Of Deletions/Duplications In Casr
Hypoparathyroidism:

Mlpa Analysis Of Deletions/Duplications In Casr
Hypophosphatemic Rickets, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Phex And Fgf23
Hypophosphatemic Rickets, X Linked:

Mlpa Analysis Of Deletions/Duplications In Phex
Hypophosphatemic Rickets, X Linked:

Mlpa Analysis Of Deletions/Duplications In Phex And Fgf23
Growth Delay Due To Insulin-Like Growth Factor I Resistance:

Mlpa Analysis Of Deletions/Duplications In Igf1R
Androgen Insensitivity Syndrome:

Mlpa Analysis Of Deletions/Duplications In El Gen Ar
Kallmann Syndrome Type 1:

Mlpa Analysis Of Deletions/Duplications In (Anos1) Kal1

Hematological And Cardiovascular Diseases

Capillary Malformation- Arteriovenous Malforamtion:

Mlpa Analysis Of Deletions/Duplications In Rasa1
Williams-Beuren, Syndrome (Supravalvular Aortic Stenosis):

Mlpa Analysis Of Deletions/Duplications In Eln And Limk1
Atypical Hemolytic Uremic Syndrome:

Mlpa Analysis Of Deletions/Duplications In Cfh, Cfhr3, Cfhr1 And Cfhr2
Atypical Hemolytic Uremic Syndrome:

Mlpa Analysis Of Deletions/Duplications In Cfi And Cd46
Tetralogy Of Fallot:

Mlpa Analysis Of Deletions/Duplications In Jag1
Alpha Thalassemia:

Mlpa Analysis Of Deletions In Hba1-2
Alpha Thalassemia With Intellectual Deficit (X-Linked):

Mlpa Analysis Of Deletions/Duplications In Atrx
Blackfan-Diamond Anemia:

Mlpa Analysis Of Deletions/Duplications In Rps19, Rpl5, Rps26, Rpl11, Rpl35A And Rps17
Fanconi Anemia (Complementation Group A):

Mlpa Analysis Of Deletions/Duplications In Fanca
Fanconi Anemia (Complementation Group N):

Mlpa Analysis Of Deletions/Duplications In Palb2, Rad50, Rad51C And Rad51D
Beta Thalassemia:

Mlpa Analysis Of Deletions/Duplications Inhbb
Protein C Deficiency:

Mlpa Analysis Of Deletions/Duplications In El Gen Proc
Antithrombin Iii Deficiency:

Mlpa Analysis Of Deletions/Duplications In Serpinc1
Coagulation Factor V, Deficiency:

Mlpa Analysis Of Deletions/Duplications In F5
Coagulation Factor Xii, Deficiency:

Mlpa Analysis Of Deletions/Duplications In F12
Delta Thalassemia:

Mlpa Analysis Of Deletions/Duplications In Hbd
Hemophilia A:

Mlpa Analysis Of Deletions/Duplications In F8
Hemophilia B:

Mlpa Analysis Of Deletions/Duplications In F9
Hereditary Macrothrombocytopenia (May-Hegglin/ Flechtner/ Epstein Syndrome):

Mlpa Analysis Of Deletions/Duplications In Myh9

Immunological Diseases

Kidney And Hereditary Tubulopathy Diseases

Hypophosphatemic Rickets, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Phex And Fgf23
Hypophosphatemic Rickets, X Linked:

Mlpa Analysis Of Deletions/Duplications In Phex And Fgf23
Alport Syndrome:

Mlpa Analysis Of Deletions/Duplications In Col4A3
Alport Syndrome:

Mlpa Analysis Of Deletions/Duplications In Col4A4
Alport Syndrome:

Mlpa Analysis Of Deletions/Duplications In Col4A5
Bartter Syndrome, Classic ,Type 3:

Mlpa Analysis Of Deletions In Clcnkb
Gitelman Syndrome:

Mlpa Analysis Of Deletions In Clcnkb
Gitelman Syndrome:

Mlpa Analysis Of Deletions In Slc12A3
Nail-Patella Syndrome:

Mlpa Analysis Of Deletions/Duplications In Lmx1B
Nephrotic Syndrome:

Mlpa Analysis Of Deletions/Duplications In Wt1
Nephrotic Syndrome With Diffuse Mesangial Sclerosis:

Mlpa Analysis Of Deletions/Duplications In Wt1
Nephrotic Syndrome, Early-Onset:

Mlpa Analysis Of Deletions/Duplications In Wt1
Cystinosis:

Mlpa Analysis Of Deletions/Duplications In Ctns
Cholestasis, Progressive, Familial Intrahepatic:

Mlpa Analysis Of Deletions/Duplications In Abcb4
Polycystic Kidney Disease, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Pkd1
Polycystic Kidney Disease, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Pkd1 And Pkd2
Polycystic Kidney Disease, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Pkd2
Polycystic Kidney Disease, Infantile, Autosomal Recessive:

Mlpa Analysis Of Deletions/Duplications In Pkhd1

Metabolic Diseases

Krabbe Disease:

Mlpa Analysis Of Deletions/Duplications In Galc
Menkes Disease:

Mlpa Analysis Of Deletions In Atp7A
Phenylketonuria:

Mlpa Analysis Of Deletions/Duplications In Pah
Galactosemia Type 1 (Galactose-1-Phosphate Uridylyltransferase Deficiency):

Mlpa Analysis Of Deletions/Duplications In Galt
Glycogen Storage Disease, Type 2 – Pompe Disease:

Mlpa Analysis Of Deletions/Duplications In Gaa
Hemochromatosis, Hereditary:

Mlpa Analysis Of Deletions/Duplications In Hfe, Hfe2, Hamp, Tfr2 And Slc40A1
Hemochromatosis Type 4 (Dominant Inheritance):

Mlpa Analysis Of Deletions/Duplications In Hfe, Hfe2, Hamp, Tfr2 And Slc40A1
Hypercholesterolemia, Familial:

Mlpa Analysis Of Deletions/Duplications In Ldlr
Hyperglycinemia, Nonketotic/Glycine Encephalopathy:

Mlpa Analysis Of Deletions In Gldc
Hyperoxaluria Type 1, Primary:

Mlpa Analysis Of Deletions/Duplications In Agxt
Hypertriglyceridemia, Major:

Mlpa Analysis Of Deletions In Lpl
Fructose Intolerance Or Fructosemia:

Mlpa Analysis Of Deletions/Duplications In Aldob
Mucopolysaccharidosis Type 2 (Hunter Syndrome):

Mlpa Analysis Of Deletions In Ids
Glut1 Deficiency Syndrome:

Mlpa Analysis Of Deletions In Slc2A1
Mitochondrial Dna Depletion Syndrome, Myopathic Form:

Mlpa Analysis Of Deletions/Duplications In Tk2
Hyper-Ige Syndrome, Autosomal Recessive:

Mlpa Analysis Of Deletions/Duplications In Dock8
Chylomicronemia Syndrome, Familial:

Mlpa Analysis Of Deletions In Lpl
Occipital Horn Syndrome:

Mlpa Analysis Of Deletions In Atp7A
Propionic Acidemia:

Mlpa Analysis Of Deletions In Pcca And Pccb
Protein S Deficiency, Congenital:

Mlpa Analysis Of Deletions/Duplications In Pros1
Medium Chain Fatty Acid Acyl-Coenzyme A Dehydrogenase Deficiency:

Mlpa Analysis Of Deletions/Duplications In Acadm
Very Long Chain Acyl-Coa Dehydrogenase Deficiency:

Mlpa Analysis Of Deletions/Duplications In Acadvl
Hmg-Coa Synthetase Deficiency:

Mlpa Analysis Of Deletions/Duplications In Hmgcs2
Ornithine Transcarbamylase Deficiency, X-Linked:

Mlpa Analysis Of Deletions/Duplications In Otc
Pyruvate Kinase Deficiency (Hemolytic Anemia):

Mlpa Analysis Of Deletions/Duplications In Pklr
Urea Cycle Disorders:

Mlpa Analysis Of Deletions/Duplications In Otc
Carnitine Deficiency, Systemic Primary:

Mlpa Analysis Of Deletions/Duplications In Slc22A5
Fabry Disease (Alpha-Galactosidase Deficiency ):

Mlpa Analysis Of Deletions/Duplications In Gla

Mitochondrial Diseases

Multisystemic Diseases

Opitz G/Bbb Syndrome X-Linked:

Mlpa Analysis Of Deletions/Duplications In Mid1
Parkes-Weber Syndrome:

Mlpa Analysis Of Deletions/Duplications In Rasa1
Silver-Russell Syndrome:

Maternal Uniparental Disomy Of Chromosome 7 (Mupd7) – Methylation Anaysis In The 7Q32, 7P12 Region By Ms-Mlpa
Silver-Russell Syndrome:

Ms-Mlpa Analysis Of The 11P15.5 Region – Dmr1 (Ic1) And Dmr2 (Ic2) – Methylation, Cnvs And Uniparental Disomy Analysis
Simpson-Golabi-Behmel Syndrome:

Mlpa Analysis Of Deletions/Duplications In Gpc3 And Gpc4
Townes Brocks Syndrome:

Mlpa Analysis Of Deletions In Sall1
Wagr Syndrome:

Mlpa Analysis Of Deletions In 11P13 Region
Gaucher Disease:

Mlpa Analysis Of Deletions/Duplications In Gba
Noonan Syndrome:

Mlpa Analysis Of Deletions/Duplications Of The Lztr1 Gene
Wilson Disease:

Mlpa Analysis Of Deletions In Atp7B
Tuberous Sclerosis:

Mlpa Analysis Of Deletions/Duplications In Tsc1
Tuberous Sclerosis:

Mlpa Analysis Of Deletions/Duplications In Tsc2
Cystic Fibrosis (Mucoviscidosis):

Mlpa Analysis Of Deletions/Duplications In Cftr
Pneumothorax, Primary Spontaneous:

Mlpa Analysis Of Deletions/Duplications In Flcn
Bor Syndrome (Branchio-Oto-Renal):

Type 1: Mlpa Analysis Of Deletions/Duplications In Eya1
Bpes Syndrome (Blepharophimosis-Ptosis-Epicanthus Inversus):

Mlpa Analysis Of Deletions/Duplications In Foxl2
Alagille Syndrome:

Mlpa Analysis Of Deletions In Jag1
Beckwith-Wiedemann Syndrome:

Ms-Mlpa Analysis Of The 11P15.5 Region – Dmr1 (Ic1) And Dmr2 (Ic2) – For Methylation, Cnvs And Uniparental Disomy Analysis
Cornelia De Lange Syndrome, Autosomal Dominant:

Mlpa Analysis Of Deletions In Nipbl
Denys-Drash Syndrome:

Mlpa Analysis Of Deletions/Duplications In Wt1
Ehlers-Danlos Syndrome, Classic, Types 1 And 2:

Mlpa Analysis Of Deletions/Duplications In Col5A1
Ehlers-Danlos Syndrome, Arthrocalasia Type, 7A And 7B:

Mlpa Analysis Of Deletions/Duplications In Col1A1
Ehlers-Danlos Syndrome, Arthrocalasia Type, 7A And 7B:

Mlpa Analysis Of Deletions/Duplications In Col1A2
Ehlers-Danlos Syndrome, Kyphoscoliotic, Type 6:

Mlpa Analysis Of Deletions/Duplications In Plod1
Ehlers-Danlos Syndrome, Articular Hypermobility Syndrome, Type 3:

Mlpa Analysis Of Deletions/Duplications In Col3A1 And Tnxb
Ehlers-Danlos Syndrome, Vascular, Type 4:

Mlpa Analysis Of Deletions/Duplications In Col3A1 And Tnxb
Feingold Syndrome Type 1:

Mlpa Analysis Of Deletions/Duplications In Mycn
Frasier Syndrome:

Mlpa Analysis Of Deletions/Duplications In Wt1
Marfan Syndrome:

Mlpa Analysis Of Deletions/Duplications In Fbn1

Neoplasic And Cancer Diseases

Von Hippel-Lindau Syndrome:

Mlpa Analysis Of Deletions/Duplications In Vhl
Lymphoproliferative Syndrome, X-Linked (Duncan Disease):

Mlpa Analysis Of Deletions In Sh2D1A
Wilms Tumor (Nephroblastoma):

Mlpa Analysis Of Deletions/Duplications In Wt1
Schwannomatosis, Familial:

Mlpa Analysis Of Deletions/Duplications Of The Lztr1 Gene
Neurofibromatosis Type 2:

Mlpa Analysis Of Deletions In Nf2
Osteochondroma / Chondrosarcoma:

Mlpa Analysis Of Deletions In Ext1 And Ext2
Osteosarcoma:

Mlpa Analysis Of Deletions/Duplications In Tp53
Pheochromocytoma-Paraganglioma, Familial:

Mlpa Deletions/Duplications Analysis In Sdha And Max
Pheochromocytoma-Paraganglioma, Familial:

Mlpa Deletions/Duplications Analysis In Sdhb, Sdhc And Sdhd
Polyposis, Familial Adenomatous (Fap):

Mlpa Analysis Of Deletions In Apc
Polyposis, Familial Adenomatous (Fap):

Mlpa Analysis Of Deletions/Duplications In Mutyh And Grem1
Polyposis, Multiple:

Mlpa Analysis Of Deletions/Duplications In Mutyh
Retinoblastoma:

Mlpa Analysis Of Deletions/Duplications In Rb1
Schwannomatosis, Familial:

Mlpa Analysis Of Deletions/Duplications In Smarcb1
Beckwith-Wiedemann Syndrome:

Ms-Mlpa Analysis Of The 11P15.5 Region – Dmr1 (Ic1) And Dmr2 (Ic2) – For Methylation, Cnvs And Uniparental Disomy Analysis
Birt-Hogg-Dube Syndrome:

Mlpa Analysis Of Deletions/Duplications In Flcn
Nevoid Basal Cell Carcinoma (Gorlin Syndrome):

Mlpa Analysis Of Deletions/Duplications In Ptch1
Nevoid Basal Cell Carcinoma (Gorlin Syndrome):

Mlpa Analysis Of Deletions/Duplications In Sufu
Digeorge Syndrome:

Mlpa Analysis Of The 22Q11.2 Region Deletion
Li-Fraumeni Syndrome (Tp53):

Mlpa Analysis Of Deletions/Duplications In Tp53
Li-Fraumeni Syndrome Type 2:

Mlpa Analysis Of Deletions/Duplications In Chek2
Peutz-Jeghers Syndrome:

Mlpa Analysis Of Deletions/Duplications In Stk11
Polyposis, Juvenile:

Mlpa Analysis Of Deletions In Pten, Bmpr1A And Smad4
Tumor Predisposition Syndrome:

Mlpa Analysis Of Deletions/Duplications In Bap1
Colorectal Cancer, Nonpolyposic (Lynch Syndrome):

Mlpa Analysis Of Deletions In Pms2
Breast Cancer:

Mlpa Analysis Of Deletions/Duplications In Bard1
Breast Cancer:

Mlpa Analysis Of Deletions/Duplications In Palb2, Rad50, Rad51C And Rad51D
Breast And Ovarian Cancer:

Mlpa Analysis Of Deletions In Brca1
Breast And Ovarian Cancer:

Mlpa Analysis Of Deletions In Brca2
Breast And Ovarian Cancer:

Mlpa Analysis Of Deletions In Brip1 And Chek1
Breast And Ovarian Cancer:

Mlpa Analysis Of Deletions/Duplications In Palb2, Rad50, Rad51C And Rad51D
Gastric Cancer, Familial Diffuse:

Mlpa Analysis Of Deletions/Duplications In Cdh1
Adrenocortical Carcinoma, Pediatric:

Mlpa Analysis Of Deletions/Duplications In Tp53
Renal Cell Carcinoma Type 1:

Mlpa Analysis Of Deletions/Duplications In Vhl
Thyroid Carcinoma, Medullary:

Mlpa Analysis Of Deletions/Duplications In Ret
Cowden Disease / Cowden-Like:

Mlpa Analysis Of Deletions In Pten And Bmpr1A
Pheochromocytoma:

Mlpa Analysis Of Deletions/Duplications In Vhl
Cerebellar Hemangioma:

Mlpa Analysis Of Deletions/Duplications In Vhl
Leiomyomatosis And Renal Cell Cancer:

Mlpa Analysis Of Deletions/Duplications In Fh
Melanoma, Cutaneous Malignant (Cmm2):

Ms-Mlpa – Methylation Analysis Of 9P21.3 Region(Cdkn2A And Cdkn2B)
Multiple Endocrine Neoplasia Type 1 (Men1):

Mlpa Analysis Of Deletions In Men1
Multiple Endocrine Neoplasia Type 2 (Men2):

Mlpa Analysis Of Deletions/Duplications In Ret
Neurofibromatosis Type 1:

Mlpa Analysis Of Deletions In Nf1
Neurofibromatosis 1-Like Syndrome (Legius Syndrome):

Mlpa Analysis Of Deletions/Duplications In Spred1
Pituitary Adenoma, Familial:

Mlpa Analysis Of Deletions In Aip
Colorectal Cancer, Nonpolyposic (Lynch Syndrome):

Mlpa Analysis Of Deletions In Mlh1 And Msh2
Colorectal Cancer, Nonpolyposic (Lynch Syndrome):

Mlpa Methylation Analysis Of Mlh1, Msh2, Msh6 And Pms2
Colorectal Cancer, Nonpolyposic (Lynch Syndrome):

Mlpa Analysis Of Deletions In Msh6

Neurologic And Neuromuscular Diseases

Gaucher Disease:

Mlpa Analysis Of Deletions/Duplications In Gba
Rett Syndrome:

Mlpa Analysis Of Deletions/Duplications In Foxg1
Rett Syndrome:

Mlpa Analysis Of Deletions/Duplications In Mecp2
Rubinstein-Taybi Syndrome:

Mlpa Analysis Of Deletions In Crebbp
Rubinstein-Taybi Syndrome:

Mlpa Analysis Of Deletions/Duplications In Ep300
Silver-Russell Syndrome:

Maternal Uniparental Disomy Of Chromosome 7 (Mupd7) – Methylation Anaysis In The 7Q32, 7P12 Region By Ms-Mlpa
Silver-Russell Syndrome:

Ms-Mlpa Analysis Of The 11P15.5 Region – Dmr1 (Ic1) And Dmr2 (Ic2) – Methylation, Cnvs And Uniparental Disomy Analysis
Smith-Lemli-Opitz Syndrome:

Mlpa Analysis Of Deletions/Duplications In Dhcr7
Smith-Magenis Syndrome:

Mlpa Anlysis Of 17P11.2 Deletion In Rai1
Sotos Syndrome:

Mlpa Analysis Of Deletions/Duplications Innsd1
Temple Syndrome:

Uniparental Maternal Disomy Of Chromosome 14 (Upd14) – Methylation Study In The 14Q32 Region By Mlpa
Usher Syndrome Type 1:

Mlpa Analysis Of Deletions/Duplications In Pcdh15 (Ush1F)
Usher Syndrome Type 2:

Mlpa Analysis Of Deletions/Duplications In Ush2A
Waardenburg Syndrome Type 2:

Mlpa Analysis Of Deletions/Duplications Inmitf
Waardenburg Syndrome Type 2:

Mlpa Analysis Of Deletions/Duplications Insnai2
Waardenburg Syndrome Types 1 And 3:

Mlpa Analysis Of Deletions/Duplications In: Pax3 And Mitf
Weaver Syndrome:

Mlpa Analysis Of Deletions/Duplications Innsd1
Wolfram Syndrome Type 1:

Mlpa Analysis Of Deletions/Duplications Inwfs1
Deafness, Nonsyndromic Sensorineural, Autosomal Dominant:

Mlpa Analysis Of Deletions In Gjb2, Gjb3, Gjb6 And Wfs1
Deafness, Nonsyndromic Sensorineural, Autosomal Recessive:

Mlpa Analysis Of Deletions In Gjb2 And Gjb6
Deafness, Nonsyndromic Sensorineural, Autosomal Recessive:

Mlpa Analysis Of Deletions/Duplications In Pcdh15 (Ush1F)
Parkinsonism, Lewy Body (Park1/ Park4):

Mlpa Analysis Of Deletions/Duplications Snca And Park2 (Prkn)
Parkinson Disease, Juvenile, Autosomal Recessive (Park2):

Mlpa Analysis Of Deletions/Duplications Park2 (Prkn) And Snca
Pseudohypoparathyroidism / Pseudopseudohypoparathyroidism:

Methylation Analysis Of The 20Q13.3 Region (Gnas)
Aarskog Syndrome (Faciodigitogenital Syndrome Or Faciogenital Dysplasia):

Mlpa Analysis Of Deletions/Duplications In Fgd1
Aicardi-Goutieres Syndrome:

Mlpa Analysis Of Deletions/Duplications In Rnaseh2A, Rnaseh2B, Rnaseh2C, Samhd1 And Trex1
Antley-Bixler Syndrome:

Mlpa Analysis Of Deletions/Duplications In Por
Charge Syndrome:

Mlpa Analysis Of Deletions/Duplications Inchd7
Coffin-Lowry Syndrome:

Mlpa Analysis Of Deletions/Duplications In Rps6Ka3
Cohen Syndrome:

Mlpa Analysis Of Deletions In Coh1
Mitochondrial Dna Depletion Syndrome, Myopathic Form:

Mlpa Analysis Of Deletions/Duplications In Tk2
Thoracic Dysplasia And Mental Retardation Syndrome (Kagami-Ogata):

Uniparental Paternal Disomy Of Chromosome 14 (Upd14) -Methylation Study In The 14Q32 Region By Mlpa
Subcortical Band Heterotopia:

Mlpa Analysis Of Deletions/Duplications In Dcx
Kabuki Syndrome:

Mlpa Analysis Of Deletions/Duplications In Kmt2D
Kleefstra Syndrome:

Mlpa Analysis Of Deletions Of Ehmt1
2Q33.1 Microdeletion Syndrome/ Satb2 Haploinsufficiency:

Mlpa Analysis Of Deletions In 2Q33.1 (Satb2)
Mowat-Wilson Syndrome:

Mlpa Analysis Of Deletions/Duplications In Zeb2
Pallister-Hall Syndrome:

Mlpa Analysis Of Deletions/Duplications In Gli3
Pendred Syndrome:

Mlpa Analysis Of Deletions/Duplications In Slc26A4
Prader-Willi And Angelman Syndrome:

Mlpa Methylation Analysis Of The Genomic Region Pws/As, To Detect The Deletion Or The Uniparental Disomy.
Rett Syndrome:

Mlpa Analysis Of Deletions/Duplications Incdkl5
Leukodystrophy, Adult-Onset, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Lmnb1
Neuronal Ceroid Lipofuscinosis:

Mlpa Analysis Of Deletions/Duplications In Ppt1, Tpp1, Cln3, Cln6 And Cln8
Isolated Lissencephaly (Classical):

Mlpa Analysis Of Deletions/Duplications In Pafah1B1 (Lis1)
Lissencephaly, X-Linked:

Mlpa Analysis Of Deletions/Duplications In Dcx
Centronuclear Myopathy, Congenital, X-Linked (Myotubular Myopathy):

Mlpa Analysis Of Deletions/Duplications In Mtm1
Miyoshi Myopathy:

Mlpa Analysis Of Deletions/Duplications In Ano5
Miyoshi Myopathy:

Mlpa Analysis Of Deletions/Duplications In Dysf
Myotonia Congenita (Thomsen And Becker Disease):

Mlpa Analysis Of Deletions/Duplications In Clcn1
Pantothenate Kinase Associated Neurodegeneration (Hallervorden-Spatz Disease):

Mlpa Analysis Of Deletions/Duplications In Pank2 And Pla2G6
Pla2G6-Related Neurodegeneration:

Mlpa Analysis Of Deletions/Duplications In Pank2 And Pla2G6
Neurofibromatosis Type 1:

Mlpa Analysis Of Deletions In Nf1
Neurofibromatosis 1-Like Syndrome (Legius Syndrome):

Mlpa Analysis Of Deletions/Duplications In Spred1
Neurofibromatosis Type 2:

Mlpa Analysis Of Deletions In Nf2
Neuropathy, Tomaculous (Hereditary Neuropathy With Liability To Pressure Palsies):

Mlpa Analysis Of 17P11.2 Deletion In Pmp22
Periodic Paralysis, Hyperkalemic:

Mlpa Analysis Of Deletions/Duplications In Scn4A And Cacna1S
Periodic Paralysis, Hypokalemic:

Mlpa Analysis Of Deletions/Duplications In Scn4A And Cacna1S
Spastic Paraplegia, Familial, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Spast/Spg4 And Spg3A
Spastic Paraplegia, Familial, Autosomal Recessive:

Mlpa Analysis Of Deletions In Spg11
Spastic Paraplegia, Familial, Autosomal Recessive:

Mlpa Analysis Of Deletions In Spg7
Spastic Paraplegia, Familial, X-Linked:

Mlpa Analysis Of Duplications In Plp1 (Spg2)
Muscular Dystrophy, Limb-Girdle, Type 2B, Autosomal Recessive:

Mlpa Analysis Of Deletions/Duplications In Dysf
Muscular Dystrophy, Limb-Girdle, Type 2L, Autosomal Recessive:

Mlpa Analysis Of Deletions/Duplications In Ano5
Muscular Dystrophy, Duchenne And Becker:

Mlpa Analysis Of Deletions/Duplications In Dmd
Muscular Dystrophy, Merosin-Deficient Type 1A:

Mlpa Analysis Of Deletions/Duplications In Lama2
Epileptic Encephalopathy, Early Infantile:

Type 7: Mlpa Analysis Of Deletions In Kcnq2
Canavan Disease:

Mlpa Analysis Of Deletions/Duplications In Aspa
Niemann-Pick Disease Type C:

Mlpa Analysis Of Deletions/Duplications: Npc1, Npc2 And Smpd1
Pelizaeus-Merzbacher Disease:

Mlpa Analysis Of Deletions/Duplications In Plp1 (Spg2)
Tay-Sachs Disease:

Mlpa Analysis Of Deletions/Duplications In Hexa
Wilson Disease:

Mlpa Analysis Of Deletions In Atp7B
Epilepsy, Benign Familial Infantile:

Mlpa Analysis Of Deletions/Duplications Inkcnq2
Epilepsy Generalized With Febrile Seizures Plus:

Mlpa Analysis Of Deletions/Duplications In Scn1A
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Lgi1
Severe Myoclonic Epilepsy Of Infancy (Dravet Syndrome):

Mlpa Analysis Of Deletions/Duplications Inscn1A
Epilepsy, Progressive Myoclonic Type 2 (Lafora):

Mlpa Analysis Of Deletions/Duplications In Epm2A
Epilepsy, Benign Neonatal:

Mlpa Analysis Of Deletions/Duplications Inkcnq2
Tuberous Sclerosis:

Mlpa Analysis Of Deletions/Duplications In Tsc1
Tuberous Sclerosis:

Mlpa Analysis Of Deletions/Duplications In Tsc2
Hyperglycinemia, Nonketotic/Glycine Encephalopathy:

Mlpa Analysis Of Deletions In Gldc
Holoprosencephaly:

Mlpa Analysis Of Deletions/Duplications In Shh, Zic2, Six3 Andtgif1
Adrenoleukodystrophy Or Schilder Disease, X-Linked:

Mlpa Analysis Of Deletions/Duplications In Abcd1
Alzheimer Disease, Early- Onset Familial:

Mlpa Analysis Of Duplications In App
Amyotrophy, Hereditary Neuralgic:

Mlpa Analysis Of Duplications In Sept9
Cerebral Amyloid Angiopathy:

Mlpa Analysis Of Duplications In App
Ataxia-Oculomotor Apraxia, Type 2 (Aoa2):

Mlpa Analysis Of Deletions Of Setx
Spinocerebellar Ataxia, Autosomal Recessive:

Type 1: Mlpa Analysis Of Deletions Of Setx
Ataxia-Telangiectasia Or Louis-Bar Syndrome:

Mlpa Analysis Of Deletions/Duplications In Atm
Spinal Muscular Atrophy (Werdnig-Hoffmann Disease):

Mlpa Analysis Of Exons 7 And 8 Deletions Of Smn1
Spinal Muscular Atrophy With Respiratory Distress:

Mlpa Analysis Of Deletions/Duplications In Ighmbp2
Cerebral Cavernous, Familial:

Mlpa Analysis Of Deletions In Ccm1, Ccm2 And Ccm3
Charcot-Marie-Tooth Disease Type 1A:

Mlpa Analysis Of Duplication Cmt1A (17P11.2) In Pmp22
Charcot-Marie-Tooth Disease Type 1X, X-Linked:

Mlpa Analysis Of Deletions/Duplications In Gjb1
Chorea, Hereditary Benign:

Mlpa Analysis Of Deletions In Nkx2-1
Frontotemporal Dementia:

Análisis Mlpa De Grandes Deleciones En Mapt And Grn
Paroxysmal Exertion-Inducted Dyskinesia:

Mlpa Analysis Of Deletions In Slc2A1
Campomelic Dysplasia:

Mlpa Analysis Of Deletions/Duplications In Sox9
Dystonia, Dopa-Responsive (Dyt5):

Mlpa Analysis Of Deletions/Duplications In Gch1, Sgce And Th
Dystonia, L-Dopa-Responsive (Tyrosine Hydroxylase Deficiency):

Mlpa Analysis Of Deletions Gch1, Sgce And Th
Dystonia, Myoclonic (Dyt11):

Mlpa Analysis Of Deletions Gch1, Sgce And Th
Muscular Dystrophy, Limb-Girdle, Type 2A, Autosomal Recessive:

Mlpa Analysis Of Deletions/Duplications In Capn3

Ophthalmologic Diseases

Ocular Albinism, X-Linked:

Mlpa Analysis Of Deletions In Gpr143
Albinism, Oculocutaneous (Oca):

Mlpa Analysis Of Deletions/Duplications In Tyr And Oca2
Leber Congenital Amaurosis:

Mlpa Analysis Of Aipl1, Crb1, Crx And Rpe65
Leber Congenital Amaurosis:

Mlpa Analysis Of Gucy2D, Rdh12, Rpgrip1, Cep290
Anophthalmia / Microphtalmia:

Mlpa Analysis Of Deletions In Six3 And Shh
Anophthalmia / Microphtalmia:

Mlpa Analysis Of Deletions In Sox2 And Pax6
Optic Atrophy, Autosomal Dominant, Type 1:

Mlpa Analysis Of Deletions In Opa1
Cone-Rod Dystrophy, Autosomal Recessive:

Mlpa Analysis Of Deletions/Duplications In Abca4
Foveomacular Vitelliform Dystrophy:

Mlpa Analysis Of Deletions/Duplications In Best1 And Prph2
Stargardt Disease Type 1 (Fundus Flavimaculatus):

Mlpa Analysis Of Deletions/Duplications In Abca4
Ophthalmoplegia, Progressive External (Peo):

Mlpa Analysis Of Deletions/Duplications In Mtdna (Muscle Biopsy)
Retinoblastoma:

Mlpa Analysis Of Deletions/Duplications In Rb1
Retinitis Pigmentosa, Autosomal Recessive:

Mlpa Analysis Of Deletions/Duplications In Ush2A
Stickler Syndrome, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Col11A1
Stickler Syndrome, Autosomal Dominant:

Mlpa Analysis Of Deletions/Duplications In Col2A1

Reproductive System And Urogenital Diseases

Respiratory – Pneumological Diseases

Systemic Autoinflammatory Diseases

SEARCH BY DISEASE OR GENE

Search for disease or gene

Request information

LabGenetics offers a comprehensive genetic diagnostic service, personalized, flexible to the requirements of health professionals, and continuously introduces new genetic diagnostics of hereditary and rare diseases in its portfolio of services. Our goal is to establish close collaborations that allow us to obtain accurate and appropriate results for each case, as quickly and economically as possible.

MLPAs

MLPAs we perform:

SEARCH BY DISEASE OR GENE

Request information

Request more information for the test here: