MLPA testing

MLPA

Adrenoleukodystrophy

Ref. 2005

1 gene

  • ABCD1

MLPA

Alagille Tipo 1, syndrome

Ref. 10

1 gene

  • JAG1

MLPA

Alpha-Thalassemia

Ref. 2210

2 genes

  • HBA1
  • HBA2

MLPA

Alpha-1-Antitrypsin deficiency

Ref. 3653

1 gene

  • SERPINA1

MLPA

Angelman syndrome

Ref. 3248

MLPA

Aniridia

Ref. 436

1 gene

  • PAX6

MLPA

Ataxia Telangiectasia

Ref. 2480

1 gene

  • ATM

MLPA

Proximal Spinal Muscular Atrophy (SMA)

Ref. 46

2 genes

  • SMN1
  • SMN2

MLPA

Beckwith-Wiedemann syndrome

Ref. 3787

MLPA

Beta-Thalassemia

Ref. 2789

1 gene

  • HBB

MLPA

Familial Medullary Thyroid Carcinoma

Ref. 2852

1 gene

  • RET

MLPA

CHARGE syndrome

Ref. 2972

1 gene

  • CHD7

MLPA

Cystinuria

Ref. 2571

1 gene

  • SLC7A9

MLPA

Coffin-Lowry syndrome

Ref. 3343

1 genes

  • RPS6KA3

MLPA

Cleidocranial Dysplasia

Ref. 3106

1 gene

  • RUNX2

MLPA

Tuberous Sclerosis

Ref. 3276

2 genes

  • TSC1
  • TSC2

MLPA

Multiple exostoses

Ref. 150

1 gene

  • EXT1

MLPA

Multiple exostoses

Ref. 152

1 gene

  • EXT2

MLPA

Fabry, disease

Ref. 2764

1 genes

  • GLA

MLPA

Factor XII

Ref. 4094

1 gene

  • F12

MLPA

Phenylketonuria

Ref. 2502

1 genes

  • PAH

MLPA

Cystic fibrosis

Ref. 1113

1 genes

  • CFTR

MLPA

Gorlin syndrome

Ref. 1567

1 genes

  • PTCH1

MLPA

Hemophilia B

Ref. 3803

1 genes

  • F9

MLPA

X-linked Periventricular Heterotopia

Ref. 2739

1 genes

  • FLNA

MLPA

Holt-Oram syndrome

Ref. 2427

1 genes

  • TBX5

MLPA

Kallman type I syndrome

Ref. 193

1 genes

  • ANOS1

MLPA

Kallman type II syndrome

Ref. 2973

1 genes

  • CHD7

MLPA

Kallman type II syndrome

Ref. 195

1 genes

  • FGFR1

MLPA

Li Fraumeni syndrome

Ref. 2428

1 genes

  • TP53

MLPA

Loeys-Dietz syndrome

Ref. 1958

2 genes

  • TGFBR1
  • TGFBR2

MLPA

MENKES syndrome

Ref. 2338

1 genes

  • ATP7A

MLPA

22q11.2 microdeletion (DiGeorge, velocardiofacial), syndrome

Ref. 222

MLPA

Nail Patella Syndrome

Ref. 2524

1 genes

  • LMX1B

MLPA

Wilms tumor

Ref. 770

1 genes

  • WT1

MLPA

Multiple Endocrine Neoplasia type 2A

Ref. 2853

1 genes

  • RET

MLPA

Neurofibromatosis type 1

Ref. 237

1 genes

  • NF1

MLPA

Neurofibromatosis type 2

Ref. 240

1 genes

  • NF2

MLPA

Hereditary Pressure Sensitivity Neuropathy (HNPP)

Ref. 242

1 genes

  • PMP22

MLPA

Morbid obesity

Ref. 4106

1 genes

  • MC4R

MLPA

Hereditary pancreatitis

Ref. 2743

1 genes

  • CFTR

MLPA

Hereditary pancreatitis

Ref. 3857

1 genes

  • PRSS1

MLPA

Peutz-Jeghers syndrome

Ref. 274

1 genes

  • STK11

MLPA

Autosomal Dominant Polycystic Kidney Disease

Ref. 3804

2 genes

  • PKD1
  • PKD2

MLPA

Autosomal Recessive Polycystic Kidney Disease

Ref. 974

1 genes

  • PKHD1

MLPA

Acute Intermittent Porphyria

Ref. 2738

1 genes

  • HMBS

MLPA

Prader-Willi syndrome

Ref. 3247

MLPA

Pseudoxanthoma Elasticum

Ref. 1374

1 genes

  • ABCC6

MLPA

Rendu-Osler-Weber syndrome

Ref. 2059

3 genes

  • ACVRL1
  • BMPR2
  • ENG

MLPA

Russell-Silver syndrome

Ref. 4245

MLPA

Russell-Silver syndrome

Ref. 3788

MLPA

Sotos, syndrome

Ref. 308

1 genes

  • NSD1

MLPA

Von Hippel Lindau syndrome

Ref. 315

1 genes

  • VHL

MLPA

Von Willebrand Type 1 disease

Ref. 3976

1 genes

  • VWF

MLPA

Williams-Beuren (WBS) syndrome

Ref. 319

MLPA

Wilson, disease

Ref. 892

1 genes

  • ATP7B

MLPA

Dravet syndrome (Infantile Myoclonic Epilepsy)

Ref. 1121

1 genes

  • SCN1A

MLPA

Crouzon syndrome

Ref. 2522

1 genes

  • FGFR2

MLPA

Autosomal Recessive Colorectal Adenomatous Polyposis

Ref. 2009

1 genes

  • MUTYH

MLPA

Leri-Weill dyschondrosteosis (LWD)

Ref. 384

1 genes

  • SHOX

MLPA

Familial Leiomyomatosis with Renal Carcinoma

Ref. 2748

1 genes

  • FH

MLPA

Rubinstein-Taybi syndrome

Ref. 406

1 genes

  • CREBBP

MLPA

Pseudohypoparathyroidism

Ref. 3366

1 genes

  • GNAS

MLPA

Pseudohypoparathyroidism

Ref. 3367

1 genes

  • GNAS

MLPA

Subtelomeric rearrangements

Ref. 481

MLPA

Krabbe disease

Ref. 2150

1 genes

  • GALC

MLPA

Smith-Magenis syndrome

Ref. 565

MLPA

Smith-Magenis syndrome

Ref. 2551

1 genes

  • RAI1

MLPA

Congenital Spondyloepiphyseal Dysplasia

Ref. 1324

1 genes

  • COL2A1

MLPA

Neurodegeneration with cerebral iron accumulation

Ref. 1210

1 genes

  • PANK2

MLPA

Pelizaeus-Merzbacher, disease

Ref. 601

1 genes

  • PLP1

MLPA

Ornithine Carbamyl Transferase Deficiency

Ref. 1815

1 genes

  • OTC

MLPA

Van der Woude syndrome

Ref. 1960

1 genes

  • IRF6

MLPA

Campomelic dysplasia

Ref. 641

1 genes

  • SOX9

MLPA

Juvenile Gastrointestinal Polyposis Syndrome (JIPS)

Ref. 2978

1 genes

  • SMAD4

MLPA

Niemann-Pick disease

Ref. 4683

3 genes

  • NPC1
  • NPC2
  • SMPD1

MLPA

Pendred syndrome

Ref. 703

1 genes

  • SLC26A4

MLPA

Porphyria cutanea tarda

Ref. 2774

1 genes

  • UROD

MLPA

Kabuki syndrome

Ref. 2483

1 genes

  • KDM6A

MLPA

Kabuki syndrome

Ref. 1555

1 genes

  • KMT2D

MLPA

Megalencephaly-Cystic Leukodystrophy

Ref. 1832

1 genes

  • MLC1

MLPA

Cohen’s syndrome

Ref. 1130

1 genes

  • VPS13B

MLPA

Birt-Hogg-Dube syndrome

Ref. 2503

1 genes

  • FLCN

MLPA

Opitz syndrome

Ref. 1165

1 genes

  • MID1

MLPA

X-linked lymphoproliferative syndrome

Ref. 784

1 genes

  • SH2D1A

MLPA

Saethre-Chotzen syndrome

Ref. 787

1 genes

  • TWIST1

MLPA

Autosomal dominant hyper-IgE syndrome

Ref. 3298

1 genes

  • STAT3

MLPA

Treacher Collins syndrome

Ref. 1856

1 genes

  • TCOF1

MLPA

Otofaciocervical syndrome

Ref. 825

1 genes

  • EYA1

MLPA

Myotilinopathy

Ref. 2796

1 genes

  • MYOT

MLPA

2-hydroxyglutaric aciduria

Ref. 3502

1 genes

  • D2HGDH

MLPA

Branchio-oto-renal Type 1 syndrome

Ref. 840

1 genes

  • EYA1

MLPA

Infantile Neuroaxonal Dystrophy

Ref. 1776

1 genes

  • PLA2G6

MLPA

Aarskog syndrome

Ref. 1980

1 genes

  • FGD1

MLPA

Omenn syndrome

Ref. 1915

1 genes

  • DCLRE1C

MLPA

Choroideremia

Ref. 1994

1 genes

  • CHM

MLPA

Von Willebrand Type 3 disease

Ref. 4327

1 genes

  • VWF

MLPA

Type 1 hyperlipoproteinemia

Ref. 878

1 genes

  • LPL

MLPA

Nonketotic hyperglycinemia

Ref. 3282

1 genes

  • AMT

MLPA

Nonketotic hyperglycinemia

Ref. 3281

1 genes

  • GLDC

MLPA

Hypophosphatasia

Ref. 4103

1 genes

  • ALPL

MLPA

Tay-Sachs disease

Ref. 3876

1 genes

  • HEXA

MLPA

Very long chain fatty acid acyl-CoA dehydrogenase deficiency

Ref. 1003

1 genes

  • ACADVL

MLPA

Simpson-Golabi-Behmel syndrome type 1

Ref. 992

1 genes

  • GPC3

MLPA

HRD syndrome (hypoparathyroidism renal dysplasia sensorineural deafness)

Ref. 1014

1 genes

  • GATA3

MLPA

Familial hypocalciuric hypercalcemia type I

Ref. 3099

1 genes

  • CASR

MLPA

Schwannomatosis

Ref. 1036

1 genes

  • SMARCB1

MLPA

X-linked congenital adrenal hypoplasia

Ref. 1049

1 genes

  • NR0B1

MLPA

Axenfeld-Riegeer type 3 syndrome

Ref. 2839

2 genes

  • FOXC1
  • PITX2

MLPA

Cystinosis

Ref. 3090

1 genes

  • CTNS

MLPA

Blepharophimosis-ptosis-epicanthus inversus

Ref. 2165

1 genes

  • FOXL2

MLPA

Townes-Brocks syndrome

Ref. 1902

1 genes

  • SALL1

MLPA

Autosomal recessive hyper-IgE syndrome

Ref. 1134

1 genes

  • DOCK8

MLPA

Distichiasis lymphedema and cleft palate

Ref. 3088

1 genes

  • FOXC2

MLPA

Parkes weber syndrome

Ref. 2823

1 genes

  • RASA1

MLPA

Mowat-Wilson syndrome

Ref. 1216

1 genes

  • ZEB2

MLPA

Glucose transporter type 1 deficiency

Ref. 1223

1 genes

  • SLC2A1

MLPA

Hyperparathyroidism (Jaw Tumor Syndrome)

Ref. 3462

1 genes

  • CDC73

MLPA

Pallister-Hall syndrome

Ref. 1342

1 genes

  • GLI3

MLPA

Hereditary angioedema

Ref. 3036

1 genes

  • SERPING1

MLPA

Syndromic microphthalmia type 3

Ref. 1368

1 genes

  • SOX2

MLPA

Trichorinophalangeal syndrome

Ref. 1890

1 genes

  • TRPS1

MLPA

Von Eulenburg paramyotonia congenita

Ref. 2917

1 genes

  • SCN4A

MLPA

Progressive external ophthalmoplegia

Ref. 2602

1 genes

  • POLG

MLPA

X-linked ichthyosis

Ref. 1493

1 genes

  • STS

MLPA

Primary hyperoxaluria type 1

Ref. 3108

1 genes

  • AGXT

MLPA

Growth retardation due to deficiency in insulin-like growth factor type 1

Ref. 3419

1 genes

  • IGF1

MLPA

ATR-X syndrome

Ref. 1518

1 genes

  • ATRX

MLPA

Fumaric Aciduria

Ref. 2595

1 genes

  • FH

MLPA

Autosomal dominant progressive external ophthalmoplegia

Ref. 2603

1 genes

  • POLG

MLPA

Pitt-Hopkins syndrome

Ref. 2793

1 genes

  • TCF4

MLPA

Neuralgic amyotrophy

Ref. 1764

1 genes

  • SEPT9

MLPA

Spinal muscular atrophy with respiratory failure

Ref. 1849

1 genes

  • IGHMBP2

MLPA

McCune-Albright syndrome

Ref. 3955

1 genes

  • GNAS

MLPA

Radial Ray Duane Syndrome

Ref. 2713

1 genes

  • SALL4

MLPA

Erythropoietic protoporphyria

Ref. 1909

1 genes

  • FECH

MLPA

Waardenburg-Shah syndrome

Ref. 3299

1 genes

  • SOX10

MLPA

Oto-palato-digital type 2 syndrome

Ref. 2685

1 genes

  • FLNA

MLPA

Albinism

Ref. 3098

1 genes

  • TYR

MLPA

X-linked agammaglobulinemia

Ref. 2120

1 genes

  • BTK

MLPA

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

Ref. 2801

1 genes

  • CYP17A1

MLPA

Schwannomatosis

Ref. 3584

1 genes

  • LZTR1

MLPA

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Ref. 2601

1 genes

  • POLG

MLPA

Pitt-Hopkins-like syndrome

Ref. 3083

1 genes

  • NRXN1

MLPA

Hirschsprung disease

Ref. 2850

1 genes

  • RET

MLPA

Panhypopituitarism

Ref. 3952

1 genes

  • PROP1

MLPA

Primary systemic carnitine deficiency

Ref. 3526

1 genes

  • SLC22A5

MLPA

Capillary malformation – arteriovenous malformation (MC-AV)

Ref. 4118

1 genes

  • RASA1

MLPA

Langer mesomelic dysplasia

Ref. 3909

1 genes

  • SHOX