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:

Systemic autoinflammatory diseases

Cardiovascular diseases

Dermatological diseases

Waardenburg syndrome type 2:

MLPA analysis of large deletions in the SNAI2 gene
Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome):

MLPA analysis of large deletions: ENG & ACVRL1
Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome):

MLPA analysis of deletions/duplications in SMAD4
tuberous sclerosis:

MLPA analysis of large deletions/duplications. of the TSC1 gene
tuberous sclerosis:

MLPA analysis of large deletions/duplications. of the TSC2 gene
Incontinentia Pigmenti:

Deletion of exons 4-10 in the IKBKG (NEMO) gene
X-linked ichthyosis:

MLPA analysis of large STS gene deletions
Neurofibromatosis Type 1:

Detection of large deletions in the NF1 gene by MLPA
Neurofibromatosis Type 2:

Detection of large deletions in the NF2 gene by MLPA
Neurofibromatosis Type 1-Like (Legius Syndrome):

MLPA analysis of deletions/duplications – SPRED1 gene
Pseudoxanthoma elasticum (PXE):

MLPA analysis of large ABCC6 gene deletions
Clouston syndrome:

MLPA analysis of large deletions in the GJB6 gene
Classic Ehlers-Danlos syndrome (Types 1 and 2):

MLPA analysis of deletions/duplications in COL5A1
Ehlers-Danlos syndrome type Arthrochalasia (Type 7a and 7b):

MLPA analysis of deletions/duplications in COL1A1
Ehlers-Danlos Syndrome Arthrochalasia Type (Type 7a and 7b):

MLPA analysis of deletions/duplications in COL1A2
Ehlers-Danlos syndrome type Kyphoscoliosis (Type 6):

MLPA analysis of deletions/duplications in PLOD1
Ehlers-Danlos syndrome Hypermobile type (Type 3) (s. joint hypermobility):

MLPA analysis deletions/duplications in COL3A1 & TNXB
Vascular Ehlers-Danlos Syndrome (Type 4):

MLPA analysis deletions/duplications in COL3A1 & TNXB
Autosomal recessive hyperimmunoglobulinemia (hyper IGE) syndrome:

MLPA analysis of large deletions in the DOCK8 gene
Pitt-Hopkins syndrome:

MLPA analysis of large TCF4 gene deletions
Pitt-Hopkins-Like syndrome:

MLPA analysis of large deletions of the NRXN1 gene
Waardenburg Syndrome Types 1 & 3:

MLPA analysis of large deletions: PAX3 & MITF
Waardenburg Syndrome Type 2:

MLPA analysis of large deletions in the MITF gene
Oculocutaneous albinism (OCA):

MLPA analysis of large TYR & OCA2 gene deletions
Hypohidrotic (anhidrotic) ectodermal dysplasia:

MLPA analysis of large deletions in the EDA, EDAR and EDARADD genes
Hypohidrotic ectodermal dysplasia with immune deficiency:

Deletion of exons 4-10 in the IKBKG gene
Hydrotic ectodermal dysplasia:

MLPA analysis of large deletions in the GJB6 gene
Dystrophic/pruritic epidermolysis bullosa:

MLPA analysis of deletions/duplications in COL7A1

Endocrine diseases

Kallmann syndrome type 5:

MLPA analysis of large deletions in the CHD7 gene
Acromegaly (gigantism):

MLPA analysis of large AIP gene deletions
17-beta-hydroxysteroid dehydrogenase deficiency (Pseudohermaphroditism):

MLPA analysis of deletions/duplications – CYP17A1 gene
Growth hormone deficiency (pituitary dwarfism):

MLPA analysis of deletions/duplications in the GH1 gene
Mody Diabetes Types 1-10:

MLPA analysis of large deletions in the HNF4A, GCK, HNF1A and HNF1B genes
Mody Diabetes Types 1-10:

Large deletions in the PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4 and INS genes
Familial hypocalciuric hypercalcemia type 1:

MLPA analysis of deletions/duplications in the CASR gene
Primary hyperparathyroidism:

MLPA analysis of large deletions in the MEN1 gene
Primary hyperparathyroidism:

MLPA analysis of deletions/duplications in the CASR gene
Congenital adrenal hyperplasia (21-hydroxylase deficiency):

MLPA analysis of large deletions – CYP21A2 gene
Hypocalcemia (autosomal dominant):

MLPA analysis of deletions/duplications in the CASR gene
Hypoparathyroidism:

MLPA analysis of deletions/duplications in the CASR gene
Autosomal dominant hypophosphatemic rickets:

MLPA analysis of deletions and duplications in the PHEX & FGF23 genes
X-linked hypophosphatemic rickets:

MLPA analysis of deletions and duplications in the PHEX & FGF23 genes
Delayed growth due to resistance to growth factor. Type 1 insulin:

MLPA analysis of deletions/duplications in the IGF1R gene
Androgen insensitivity syndrome (Morris syndrome):

MLPA analysis of deletions/duplications in the AR gene
Kallmann Syndrome Type 1:

MLPA analysis of large deletions in the KAL1 gene
Kallmann Syndrome Type 2:

MLPA analysis of large deletions in the KAL2 gene

Gastrointestinal and digestive system diseases

Hematological and circulatory system diseases

Atypical hemolytic uremic syndrome:

Deletions/duplications in the CFH, CFHR3, CFHR1 and CFHR2 genes
Tetralogy of Fallot:

MLPA analysis of large JAG1 gene deletions
Alpha-Thalassemia:

MLPA analysis of deletions in the HBA1-2 genes
X-linked alpha thalassemia with mental retardation:

MLPA analysis of large ATRX gene deletions
Blackfan-Diamond anemia:

Large deletions – genes RPS19, RPL5, RPS26, RPL11, RPL35A and RPS17
Fanconi Anemia (Complementation Group A):

MLPA analysis of large FANCA gene deletions
Fanconi anemia (Complementation Group N):

Deletions/duplications in the PALB2, RAD50, RAD51C & RAD51D genes
Beta-Thalassemia:

MLPA analysis of large deletions in the HBB gene
Congenital Protein C deficiency:

MLPA analysis of deletions/duplications in the PROC gene
Antithrombin III deficiency:

MLPA analysis of deletions/duplications in SERPINC1
Coagulation Factor V deficiency:

MLPA analysis of deletions/duplications in the F5 gene
Coagulation Factor XII deficiency:

MLPA analysis of large deletions in the F12 gene
Delta-Thalassemia:

MLPA analysis of large deletions in the HBD gene
Hemophilia A:

MLPA analysis of deletions/duplications in the F8 gene
Hemophilia B:

MLPA analysis of deletions/duplications in the F9 gene
Hereditary macrothrombocytopenia (May-Hegglin/Flechtner/Epstein syndrome):

MLPA analysis of deletions/duplications in the MYH9 gene
Capillary Malformation Syndrome – Arteriovenous Malformation:

MLPA analysis of deletions/duplications in RASA1
Williams-Beuren syndrome (supravalvular aortic stenosis):

Analysis of deletions of the ELN and LIMK1 genes by MLPA
Atypical hemolytic uremic syndrome:

Analysis of deletions of the CFI and CD46 genes by MLPA

Immune diseases

Metabolic diseases

Glycogenosis Type 2 – Pompe Disease:

MLPA analysis of deletions/duplications in the GAA gene
hereditary hemochromatosis:

Deletions/duplications in the HFE, HFE2, HAMP, TFR2 and SLC40A1 genes
Hemochromatosis Type 4 (dominant inheritance):

Deletions/duplications in the HFE, HFE2, HAMP, TFR2 and SLC40A1 genes
Familial hypercholesterolemia:

MLPA analysis of deletions/duplications in the LDLR gene
Nonketotic hyperglycinemia (glycine encephalopathy):

MLPA analysis of large deletions in the GLDC gene
Primary Hyperoxaluria Type 1:

MLPA analysis of deletions/duplications in the AGXT gene
Major hypertriglyceridemia:

MLPA analysis of large deletions in the LPL gene
Fructose intolerance or fructosemia:

MLPA analysis of large deletions in the ALDOB gene
Mucopolysaccharidosis Type 2 (Hunter Syndrome):

MLPA detection of large deletions of the IDS gene
Glut-1 deficiency syndrome:

MLPA analysis of large deletions in the SLC2A1 gene
Mitochondrial DNA depletion syndrome, myopathic form:

MLPA analysis of large deletions in the TK2 gene
Familial chylomicronemia syndrome:

MLPA analysis of large deletions in the LPL gene
Occipital horn syndrome:

MLPA analysis of large deletions in the ATP7A gene
Autosomal recessive hyperimmunoglobulinemia e (hyper IGE) syndrome:

MLPA analysis of large deletions in the DOCK8 gene
Propionic acidemia:

MLPA analysis of large deletions in PCCA and PCCB
Congenital protein S deficiency:

MLPA analysis of deletions/duplications in PROS1 gene
Very long chain acyl-coenzyme dehydrogenase deficiency:

MLPA analysis of deletions/duplications – ACADVL gene
Hmg-coa synthase deficiency:

MLPA analysis of deletions/duplications – HMGCS2 gene
Ornithine carbamyl transferase deficiency (X-linked):

MLPA analysis of deletions/duplications in the OTC gene
Pyruvate kinase deficiency (hemolytic anemia):

MLPA analysis of deletions/duplications in the PKLR gene
Urea cycle deficiency:

MLPA analysis of deletions/duplications in the OTC gene
Primary carnitine deficiency:

MLPA analysis of deletions/duplications in SLC22A5
Fabry disease (alpha galactosidase deficiency):

MLPA analysis of large deletions in the GLA gene
Krabbe disease:

MLPA analysis of deletions/duplications in the GALC gene
Menkes disease:

MLPA analysis of large deletions in the ATP7A gene
Phenylketonuria:

MLPA analysis of deletions/duplications in the PAH gene
Galactosemia Type 1 (galactose uridyltransferase deficiency):

MLPA analysis of large deletions in the GALT gene

Mitochondrial diseases

Multisystem diseases

Marfan syndrome:

MLPA analysis of deletions/duplications in FBN1
X-Linked Opitz G/Bbb Syndrome:

Detection of large deletions/duplications in MID1 by MLPA
Parkes-Weber syndrome:

MLPA analysis of deletions/duplications in RASA1
Silver-Russell syndrome:

MLPA study of methylation in the 11p15.5 region
Silver-Russell syndrome:

Detection of maternal uniparental disomy of chromosome 7
Simpson-Golabi-Behmel syndrome:

Large deletions and duplications in the GPC3 & GPC4 genes
Townes-Brocks syndrome:

Detection of large deletions in SALL1 by MLPA
Wagr syndrome:

MLPA analysis of large deletions in the 11p13 region
Wilson’s disease:

MLPA analysis of large ATP7B gene deletions
tuberous sclerosis:

MLPA analysis of large deletions/duplications. of the TSC1 gene
tuberous sclerosis:

MLPA analysis of large deletions/duplications. of the TSC2 gene
Cystic fibrosis (Mucoviscidosis):

MLPA analysis of large deletions/duplications. of the CFTR gene
Primary spontaneous pneumothorax:

Detection of deletions/duplications in FLCN by MLPA
Bor (Branchio-Oto-Renal) Syndrome Type 1:

MLPA analysis of large deletions/duplications. of the EYA1 gene
Bpes syndrome (blepharophimosis-ptosis-epicanthus inversus):

MLPA analysis of large deletions of the FOXL2 gene
Alagille syndrome:

MLPA analysis of large JAG1 gene deletions
Beckwith-Wiedemann syndrome (11p15.5):

Methylation study in KCNQ1OT1 (DMR2) and H19(DMR1)
Beckwith-Wiedemann syndrome (11p15.5):

Detection of paternal uniparental disomy 11p15.5
Cornelia de Lange syndrome (autosomal dominant):

MLPA analysis of large NIPBL gene deletions
Denys-Drash syndrome:

MLPA analysis of deletions/duplications in WT1
Classic Ehlers-Danlos syndrome (Types 1 and 2):

MLPA analysis of deletions/duplications in COL5A1
Ehlers-Danlos syndrome type arthrochalasia (Type 7a and 7b):

MLPA analysis of deletions/duplications in COL1A1
Ehlers-Danlos syndrome type arthrochalasia (Type 7a and 7b):

MLPA analysis of deletions/duplications in COL1A2
Ehlers-Danlos syndrome type kyphoscoliosis (Type 6):

MLPA analysis of deletions/duplications in PLOD1
Ehlers-Danlos syndrome hypermobile type (Type 3) (s. joint hypermobility):

MLPA analysis deletions/duplications in COL3A1 & TNXB
Vascular Ehlers-Danlos syndrome (Type 4):

MLPA analysis deletions/duplications in COL3A1 & TNXB
Feingold Syndrome Type 1:

MLPA analysis of large deletions/duplications – MYCN gene
Frasier syndrome:

MLPA analysis of deletions/duplications in WT1

Neurological and neuromuscular diseases

Silver-Russell syndrome:

MLPA study of methylation in the 11p15.5 region
Silver-Russell syndrome:

Detection of maternal uniparental disomy of chromosome 7
Smith-Magenis syndrome:

MLPA analysis of RAI1 gene deletion (17p11.2)
Smith-Lemli-Opitz syndrome:

MLPA analysis of deletions/duplications in DHCR7
Sotos syndrome:

MLPA analysis of large deletions in the NSD1 gene
Temple syndrome:

Maternal uniparental disomy of chromosome 14 (UPD14) – Methylation study in the 14q32 region by MLPA
Usher Syndrome Type 2:

MLPA analysis of deletions/duplications in USH2A
Waardenburg Syndrome Types 1 & 3:

MLPA analysis of large deletions: PAX3 & MITF
Waardenburg Syndrome Type 2:

MLPA analysis of large deletions in the MITF gene
Waardenburg Syndrome Type 2:

MLPA analysis of large deletions in the SNAI2 gene
Weaver syndrome:

MLPA analysis of large deletions in the NSD1 gene
Wolfram Syndrome Type 1:

MLPA analysis of deletions/duplications in WFS1
Autosomal dominant non-syndromic sensorineural deafness:

MLPA analysis of large deletions: GJB2, GJB3, GJB6 & WFS1 genes
Autosomal recessive non-syndromic sensorineural deafness:

MLPA analysis of large deletions: GJB2 & GJB6 genes
Antley-Bixler syndrome:

MLPA analysis of large POR gene deletions
Charge syndrome:

MLPA analysis of large deletions in the CHD7 gene
Coffin-Lowry syndrome:

MLPA analysis of large deletions in the RPS6KA3 gene
Cohen syndrome:

MLPA analysis large deletions of the COH1 gene – 30%
Mitochondrial DNA depletion syndrome, myopathic form:

MLPA analysis of large deletions in the TK2 gene
Thoracic dysplasia and mental retardation syndrome (Kagami-Ogata):

Paternal uniparental disomy of chromosome 14 (UPD14) – Methylation study in the 14q32 region by MLPA
Double cortex syndrome (Band heterotopia):

Duplication/deletion detection by MLPA – DCX
Kabuki syndrome:

MLPA analysis of large deletions in the KMT2D gene
Kleefstra syndrome:

MLPA analysis of large deletions – EHMT1 gene (75%)
Legius syndrome (Neurofibromatosis Type 1-Like):

MLPA analysis of deletions/duplications – SPRED1 gene
Microdeletion Syndrome 2.q33.1/Haploinsufficiency SATB2:

Analysis of deletions in region 2q33.1 (SATB2) by MLPA
Mowat-Wilson syndrome:

MLPA analysis of large deletions in the ZEB2 gene
Pallister-Hall syndrome:

MLPA analysis of large GLI3 gene deletions
Pendred syndrome:

MLPA analysis of deletions/duplications in SLC26A4
Prader-Willi & Angelman syndrome:

PWS/AS genomic region methylation by MLPA, deletions and uniparental disomy
Rett syndrome:

MLPA analysis of large deletions in the MECP2 gene
Rett syndrome:

MLPA analysis of large deletions in the CDKL5 gene
Rett syndrome:

MLPA analysis of large deletions of the FOXG1 gene
Rubinstein-Taybi syndrome:

MLPA analysis large deletions in CREBBP (10%-20%)
Rubinstein-Taybi syndrome:

MLPA analysis of large deletions in EP300
X-linked congenital centronuclear myopathy (myotubular myopathy):

MLPA analysis of large MTM1 gene deletions
Miyoshi myopathy:

MLPA analysis: deletions/duplications in the DYSF gene
Miyoshi myopathy:

MLPA analysis of deletions/duplications in the ANO5 gene
Myotonia congenita (Thomsen’s disease/Becker’s disease):

MLPA analysis of large CLCN1 gene deletions
Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz disease):

Duplications/deletions by MLPA in the PANK2 and PLA2G6 genes
Neurodegeneration associated with PLA2G6:

Duplications/deletions by MLPA in the PANK2 and PLA2G6 genes
Neurofibromatosis Type 1:

Detection of large deletions in the NF1 gene by MLPA
Neurofibromatosis Type 2:

Detection of large deletions in the NF2 gene by MLPA
Tomacular neuropathy (hereditary neuropathy with pressure hypersensitivity):

Detection by MLPA of the 17p11.2 deletion in the PMP22 gene
Hyperkalemic (hyperkalemic) periodic paralysis:

Large deletions/duplications in the SCN4A & CACNA1S genes
Hypokalemic (hypokalemic) periodic paralysis:

Large deletions/duplications in the SCN4A & CACNA1S genes
Familial spastic paraparesis of x-linked inheritance:

Detection of duplications of the PLP1 (SPG2) gene by MLPA
Familial spastic paraparesis of autosomal dominant inheritance:

Detection of deletions- SPAST/SPG4 and SPG3A by MLPA
Familial spastic paraparesis of autosomal recessive inheritance:

Detection of large deletions in the SPG7 gene by MLPA
Familial spastic paraparesis of autosomal recessive inheritance:

Detection of large deletions in the SPG11 gene by MLPA
Dominant Parkinson’s with LEWY bodies (PARK1/PARK4):

Duplications/deletions by MLPA – SNCA & PARK2 (PRKN)
Recessive juvenile Parkinson’s (PARK2):

Duplications/deletions by MLPA – PARK2 (PRKN) & SNCA
Pseudohypoparathyroidism/ Pseudopseudohypoparathyroidism:

Methylation study of the 20q13.3 region (GNAS)
Aarskog syndrome (faciodigitogenital syndrome or faciogenital dysplasia):

MLPA analysis of large deletions of the FGD1 gene
Aicardi-Goutières syndrome:

Deletions/duplications in the genes RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 and TREX1
Glycine encephalopathy/nonketotic hyperglycinemia:

MLPA analysis of large deletions in the GLDC gene
Canavan disease:

Duplication/deletion detection by MLPA – ASPA
Niemann-Pick Disease Type C:

MLPA analysis of deletions/duplications: NPC1, NPC2, SMPD1
Pelizaeus-Merzbacher disease:

Detection of duplications of the PLP1 (SPG2) gene by MLPA
Tay-Sachs disease:

MLPA analysis of large deletions/duplications – HEXA
Wilson’s disease:

MLPA analysis of large ATP7B gene deletions
Benign familial childhood epilepsy:

MLPA analysis of large deletions in the KCNQ2 gene
Generalized epilepsy with febrile seizures plus (GEFS+):

MLPA analysis of large deletions in the SCN1A gene
Autosomal dominant lateral temporal epilepsy:

MLPA analysis of large deletions in the LGI1 gene
Severe childhood myoclonic epilepsy (Dravet syndrome):

MLPA analysis of large deletions in the SCN1A gene
Progressive myoclonic epilepsy Type 2 (LAFORA):

MLPA analysis of duplications/deletions in the EPM2A gene
Benign neonatal epilepsy:

MLPA analysis of large deletions in the KCNQ2 gene
tuberous sclerosis:

MLPA analysis of large deletions/duplications. of the TSC1 gene
tuberous sclerosis:

MLPA analysis of large deletions/duplications. of the TSC2 gene
Hereditary hyperekplexia:

MLPA analysis of deletions: GLRA1,SLC6A5 and GLRB
Holoprosencephaly:

Deletions/duplications using MLPA – SHH, ZIC2, SIX3 and TGIF1 genes
Adult-onset autosomal dominant leukodystrophy:

MLPA analysis of duplications/deletions in LMNB1 gene
Neuronal ceroid lipofuscinosis:

Deletions/duplications in the PPT1, TPP1, CLN3, CLN6 and CLN8 genes
Isolated lissencephaly (classic):

Duplication/deletion detection by MLPA – LIS1
X-linked lissencephaly:

Duplication/deletion detection by MLPA – DCX
Ataxia with oculomotor apraxia Type 2 (AOA2):

MLPA analysis of large deletions in the SETX gene
Spinocerebellar ataxia of recessive inheritance Type 1:

MLPA analysis of large deletions in SETX
Ataxia telangiectasia or Louis-Bar syndrome:

Detection of duplications/deletions by MLPA – ATM gene
Spinal muscular atrophy (Werdnig-Hoffmann disease):

MLPA analysis deletion exons 7 and 8 – SMN1 gene
Spinal muscular atrophy with respiratory distress:

MLPA analysis of duplications/deletions – IGHMBP2 gene
Familial cerebral cavernomatosis:

Detection by MLPA of large deletions in CCM1,2 and 3
hereditary benign chorea:

MLPA analysis of large deletions of the NKX2-1 gene
Charcot-Marie-Tooth type 1x (X-linked):

MLPA analysis of large deletions/duplications – GJB1
Frontotemporal dementia:

MLPA analysis of large deletions in MAPT and GRN
Paroxysmal stress-induced dyskinesia:

MLPA analysis of large deletions in the SLC2A1 gene
Campomelic dysplasia:

MLPA analysis of deletions/duplications – SOX9 gene
Dopa-responsive dystonia (DYT5):

MLPA analysis of large GCH1, SGCE & TH deletions
Autosomal recessive dopasensitive dystonia (Tyrosine hydroxylase deficiency):

MLPA analysis of large GCH1, SGCE & TH deletions
Myoclonic dystonia (DYT11):

MLPA analysis of large GCH1, SGCE & TH deletions
Recessive limb-girdle muscular dystrophy Type LGMD2A (Calpain deficiency):

MLPA analysis of deletions/duplications in CAPN3
Recessive limb-girdle muscular dystrophy Type LGMD2B (dyspherlin deficiency):

MLPA analysis: deletions/duplications in the DYSF gene
Recessive limb-girdle muscular dystrophy type LGMD2L:

MLPA analysis of deletions/duplications in the ANO5 gene
Duchenne and Becker muscular dystrophy:

MLPA analysis: deletions/duplications. DMD (Dystrophin) gene
Merosin-deficient muscular dystrophy type 1A:

MLPA analysis: deletions/duplications in the LAMA2 gene
Early infantile epileptic encephalopathy. Type 7:

MLPA analysis of large deletions in KCNQ2
Adrenoleukodystrophy or Schilder’s disease (X-linked):

MLPA analysis of large deletions – ABCD1 gene
Early familial Alzheimer’s:

Detection by MLPA of duplications in the APP gene
Hereditary neuralgic amyotrophy:

Detection by MLPA of duplications in the SEPT9 gene (35%)
Cerebral amyloid angiopathy:

Detection by MLPA of duplications in the APP gene

Ophthalmological diseases

Aplasia of lacrimal and salivary glands:

MLPA analysis of large deletions in the FGF10 gene
Dominant optic atrophy Type 1:

MLPA analysis of large deletions in the OPA1 gene
Recessively inherited cone-rod dystrophy:

MLPA analysis of deletions/duplications in ABCA4
Foveomacular vitelliform dystrophy:

MLPA analysis of deletions/duplications in the BEST1 & PRPH2 genes
Stargardt Disease Type 1 (Fundus Flavimaculatus):

MLPA analysis of deletions/duplications in ABCA4
Progressive external ophthalmoplegia (PEO):

Large deletions/duplications in mitochondrial DNA MLPA muscle biopsy
Retinitis pigmentosa of autosomal recessive inheritance:

MLPA analysis of deletions/duplications in USH2A
Retinoblastoma:

Detection of deletions/duplications in RB1 by MLPA
Stickler syndrome of autosomal dominant inheritance:

MLPA analysis of deletions/duplications in COL2A1
Stickler syndrome of autosomal dominant inheritance:

MLPA analysis of deletions/duplications in COL11A1
X-Linked Ocular Albinism:

MLPA analysis of large deletions – GPR143 gene
Oculocutaneous albinism (OCA):

MLPA analysis of large TYR & OCA2 gene deletions
Leber congenital amaurosis:

MLPA analysis of AIPL1, CRB1, CRX, RPE65 genes
Leber congenital amaurosis:

MLPA analysis of GUCY2D, RDH12, RPGRIP1, CEP290 genes
Anophthalmia/microphthalmia:

Deletion analysis using MLPA – SOX2 and PAX6
Anophthalmia/microphthalmia:

Deletion analysis using MLPA – SIX3 and SHH

Oncological and neoplastic diseases – cancer

Multiple polyposis:

Detection of deletions/duplications in MUTYH by MLPA
Retinoblastoma:

Detection of deletions/duplications in RB1 by MLPA
Beckwith-Wiedemann syndrome (11p15.5):

Methylation study in KCNQ1OT1 (DMR2) and H19(DMR1)
Beckwith-Wiedemann syndrome (11p15.5):

Detection of paternal uniparental disomy 11p15.5
Birt-Hogg-Dube syndrome:

Detection of deletions/duplications in FLCN by MLPA
Digeorge syndrome:

Analysis of deletion of the 22q11.2 region by MLPA
Li-Fraumeni syndrome (TP53):

Detection of deletions/duplications in TP53 by MLPA
Li-Fraumeni Syndrome Type 2:

Detection of deletions/duplications in CHEK2 by MLPA
Peutz-Jeghers syndrome:

Detection of deletions/duplications in STK11 by MLPA
Juvenile polyposis syndrome:

MLPA analysis of deletions in PTEN, BMPR1A and SMAD4
Nevoid basal cell carcinoma syndrome (Gorlin syndrome):

MLPA analysis of deletions/duplications – PTCH1 gene
Nevoid basal cell carcinoma syndrome (Gorlin syndrome):

MLPA analysis of deletions/duplications – SUFU gene
Tumor predisposition syndrome:

MLPA analysis of deletions/duplications – BAP1 gene
Von Hippel-Lindau syndrome:

MLPA analysis of deletions/duplications in the VHL gene
X-linked lymphoproliferative syndrome (Duncan disease):

MLPA analysis of large deletions of the SH2D1A gene
Familial schwannomatosis:

MLPA analysis deletions/duplications – SMARCB1 gene
Wilms tumor (Nephroblastoma):

MLPA analysis of deletions/duplications in WT1
Familial diffuse gastric cancer:

Detection of deletions/duplications in CDH1 by MLPA
Pediatric adrenocortical carcinoma:

Detection of deletions/duplications in TP53 by MLPA
Type 1 renal cell carcinoma:

MLPA analysis of deletions/duplications in the VHL gene
Medullary thyroid carcinoma:

Detection of deletions/duplications in RET by MLPA
Cowden/Cowden-Like Disease:

MLPA analysis of deletions in PTEN and BMPR1A
Pheochromocytoma:

MLPA analysis of deletions/duplications in the VHL gene
Cerebellar hemangioma:

MLPA analysis of deletions/duplications in the VHL gene
Leiomyomatosis and renal cell cancer:

MLPA analysis of deletions/duplications in FH gene
Malignant cutaneous melanoma (CMM2):

9p21.3 region methylation study (CDKN2A & CDKN2B)
Multiple endrocrine neoplasia Type 1 (MEN1):

MLPA analysis of large deletions in the MEN1 gene
Multiple endrocrine neoplasia Type 2 (MEN2):

Detection of deletions/duplications in RET by MLPA
Neurofibromatosis Type 1:

Detection of large deletions in the NF1 gene by MLPA
Neurofibromatosis Type 2:

Detection of large deletions in the NF2 gene by MLPA
Neurofibromatosis Type 1-Like (Legius Syndrome):

MLPA analysis of deletions/duplications – SPRED1 gene
Osteochondroma/ Chondrosarcoma:

Detection of large deletions by MLPA – EXT1 and EXT2
Osteosarcoma:

Detection of deletions/duplications in TP53 by MLPA
Familial paraganglioma and pheochromocytoma:

MLPA analysis on the SDHB, SDHC and SDHD genes.
Familial paraganglioma and pheochromocytoma:

MLPA analysis of deletions/dupl – SDHA & MAX genes
Familial adenomatous polyposis (FAP):

MLPA analysis of large APC gene deletions
Familial adenomatous polyposis (FAP):

MLPA analysis deletions/duplications in MUTYH and GREM1
Familial pituitary adenoma:

MLPA analysis of large AIP gene deletions
Familial nonpolyposis colon cancer/Lynch syndrome:

MLPA analysis of large MLH1 & MSH2 gene deletions
Familial nonpolyposis colon cancer/Lynch syndrome:

MLPA analysis of large gene deletions in the MSH6 gene
Familial nonpolyposis colon cancer/Lynch syndrome:

MLPA analysis of large gene deletions in the PMS2 gene
Familial nonpolyposis colon cancer/Lynch syndrome:

MLPA analysis of the methylation status of the MLH1, MSH2, MSH6 and PMS2 genes.
Breast and ovarian cancer:

MLPA analysis of large deletions in BRCA1
Breast and ovarian cancer:

MLPA analysis of large deletions in BRCA2
Breast and ovarian cancer:

Deletions/duplications in the PALB2, RAD50, RAD51C & RAD51D genes
Breast and ovarian cancer:

MLPA analysis of large deletions in BRIP1 & CHEK1
breast cancer:

Deletions/duplications in the PALB2, RAD50, RAD51C & RAD51D genes

Bone/dental diseases and malformations

Holt-Oram syndrome:

MLPA analysis of large TBX5 gene deletions
Leri-Weill syndrome:

MLPA analysis of deletions/duplications in SHOX
Okihiro syndrome:

MLPA analysis of large SALL4 gene deletions
Pallister-Hall syndrome:

MLPA analysis of large GLI3 gene deletions
Pfeiffer syndrome:

MLPA analysis of large ROR2 gene deletions
Saethre-Chotzen syndrome:

Detection of complete TWIST1 deletion by MLPA
Treacher Collins syndrome:

MLPA analysis of deletions/duplications – TCOF1 gene
Van Der Woude Syndrome/Popliteal Pterygium Syndrome:

MLPA analysis of IRF6 gene deletions/duplications
Cleidocranial dysplasia (dysostosis):

MLPA analysis: deletions/duplications. RUNX2 Gene
Craniofrontonasal dysplasia:

MLPA analysis of deletions/duplications – EFNB1
Kniest dysplasia:

MLPA analysis of deletions/duplications in COL2A1
Congenital spondyloepiphyseal dysplasia:

MLPA analysis of deletions/duplications in COL2A1
Frontonasal dysplasia:

MLPA analysis deletions/duplications – ALX1, ALX3, ALX4 genes
Short stature (idiopathic short stature):

MLPA analysis of deletions/duplications in SHOX
Hereditary multiple exostoses (Multiple osteochondromas):

Detection of large deletions by MLPA – EXT1 and EXT2
Hypophosphatasia:

MLPA analysis of deletions/duplications in the ALPL gene
Primary autosomal recessive microcephaly (Microcephaly vera):

MLPA analysis of deletions/duplications in the genes MCPH1, MCPH2 (WDR62), MCPH3 (CDK5RAP2), MCPH5 (ASPM), MCPH6, (CENPJ) and MCPH7 (STIL)
Albright hereditary osteodystrophy:

Methylation study of the 20q13.3 region (GNAS) by MS-MLPA
Osteogenesis imperfecta (autosomal dominant):

MLPA analysis of deletions/duplications in COL1A1
Osteogenesis imperfecta (autosomal dominant):

MLPA analysis of deletions/duplications in COL1A2
Striatal osteopathy with X-linked cranial sclerosis (OSCS):

MLPA analysis of large deletions of the AMER1 gene (FAM123B)
Postaxial polydactyly Types A/B:

MLPA analysis of large GLI3 gene deletions
Pseudohypoparathyroidism/ Pseudopseudohypoparathyroidism:

Methylation study of the 20q13.3 region (GNAS) by MS-MLPA
Syndactyly Type 4:

MLPA analysis of SHH gene duplication
Aarskog syndrome (faciodigitogenital syndrome or faciogenital dysplasia):

MLPA analysis of large deletions of the FGD1 gene
Antley-Bixler syndrome:

MLPA analysis of large POR gene deletions
Axenfeld-Rieger syndrome (Rieger disease):

Deletions/duplications in PITX2 and FOXC1 by MLPA
Greig syndrome (Cephalopolysyndactyly):

MLPA analysis of large GLI3 gene deletions
Achondrogenesis Type 2:

MLPA analysis of deletions/duplications in COL2A1
Craniosynostosis:

Deletions/duplications in the FGFR1, FGFR2 and FGFR3 genes
Campomelic dysplasia:

MLPA analysis of deletions/duplications – SOX9 gene

Kidney diseases and hereditary tubulopathies

Nail-Patella Syndrome (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
Early onset nephrotic syndrome:

MLPA analysis of deletions/duplications in WT1
Cystinosis:

MLPA analysis of deletions and duplications in CTNS
Progressive familial intrahepatic cholestasis:

MLPA analysis of deletions and duplications in ABCB4
Autosomal dominant polycystic kidney disease:

MLPA analysis of deletions/duplications in the PKD1, PKD2 genes
Childhood recessive polycystic kidney disease:

MLPA analysis of deletions/duplications in PKHD1
Autosomal dominant hypophosphatemic rickets:

MLPA analysis of deletions/duplications – PHEX, FGF23 genes
X-linked hypophosphatemic rickets:

MLPA analysis of deletions/duplications – PHEX, FGF23 genes
Alport syndrome:

MLPA analysis of deletions/duplications in COL4A5
Alport syndrome:

MLPA analysis of deletions/duplications in COL4A3
Alport syndrome:

MLPA analysis of deletions/duplications in COL4A4
Classic Bartter syndrome Type 3:

MLPA analysis of large deletions in CLCNKB
Gitelman syndrome:

MLPA analysis of large deletions in SLC12A3
Gitelman syndrome:

MLPA analysis of large deletions in CLCNKB

Reproductive and urogenital diseases

Respiratory/pulmonary diseases – pulmonological

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MLPAs

MLPAs we perform:

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