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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