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NextGenDx® Massive Sequencing
NextGeneDx
Propionic Acidemia
Ref. 2591
2 genes
- PCCA
- PCCB
NextGeneDx
Glutaric aciduria type 1
Ref. 4719
1 gene
- GCDH
NextGeneDx
Alport syndrome (X-linked)
Ref. 1457
1 gene
- COL4A5
NextGeneDx
Alport syndrome
Ref. 1419
2 genes
- COL4A3
- COL4A4
NextGeneDx
Alport syndrome
Ref. 1458
3 genes
- COL4A3
- COL4A4
- COL4A5
NextGeneDx
Alzheimers disease
Ref. 2070
4 genes
- APOE
- APP
- PSEN1
- PSEN2
NextGeneDx
Alzheimers disease
Ref. 2836
3 genes
- APP
- PSEN1
- PSEN2
NextGeneDx
Episodic Ataxia
Ref. 2372
4 genes
- CACNA1A
- CACNB4
- KCNA1
- SLC1A3
NextGeneDx
Ataxia Telangiectasia
Ref. 1719
1 gene
- ATM
NextGeneDx
CADASIL (Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
Ref. 2513
1 gene
- NOTCH3
NextGeneDx
Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
Ref. 2771
4 genes
- EPCAM
- MLH1
- MSH2
- MSH6
NextGeneDx
Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
Ref. 2696
13 genes
- APC
- BMPR1A
- CDH1
- EPCAM
- FLCN
- MLH1
- MSH2
- MSH6
- MUTYH
- PTEN
- SMAD4
- STK11
- TP53
NextGeneDx
Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
Ref. 2220
5 genes
- APC
- MLH1
- MSH2
- MSH6
- MUTYH
NextGeneDx
Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
Ref. 2219
4 genes
- MLH1
- MSH2
- MSH6
- MUTYH
NextGeneDx
Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
Ref. 1416
3 genes
- MLH1
- MSH2
- MSH6
NextGeneDx
Familial Breast Cancer
Ref. 2218
4 genes
- BRCA1
- BRCA2
- PALB2
- RAD51C
NextGeneDx
Familial Breast Cancer
Ref. 1341
2 genes
- BRCA1
- BRCA2
NextGeneDx
Familial Breast Cancer
Ref. 2555
8 genes
- ATM
- BRCA1
- BRCA2
- CDH1
- PALB2
- PTEN
- STK11
- TP53
NextGeneDx
Familial Breast Cancer
Ref. 2510
6 genes
- ATM
- CDH1
- PALB2
- PTEN
- STK11
- TP53
NextGeneDx
Familial Breast Cancer
Ref. 2757
4 genes
- BRCA1
- BRCA2
- CDKN2A
- PALB2
NextGeneDx
Familial Medullary Thyroid Carcinoma
Ref. 2682
2 genes
- NTRK1
- RET
NextGeneDx
Multiple Cavernomatosis
Ref. 2329
3 genes
- CCM2
- KRIT1
- PDCD10
NextGeneDx
Duchenne-Becker Muscular Dystrophy
Ref. 1412
1 gene
- DMD
NextGeneDx
Ehlers-Danlos, Type I/Type II syndrome (classic)
Ref. 1418
2 genes
- COL5A1
- COL5A2
NextGeneDx
Tuberous Sclerosis
Ref. 1409
2 genes
- TSC1
- TSC2
NextGeneDx
Cystic fibrosis
Ref. 2942
1 gene
- CFTR
NextGeneDx
gorlin syndrome
Ref. 4503
3 genes
- PTCH1
- PTCH2
- SUFU
NextGeneDx
Gorlin syndrome
Ref. 4061
1 gene
- PTCH1
NextGeneDx
Familial Hypercholesterolemia
Ref. 2248
4 genes
- APOB
- LDLR
- LDLRAP1
- PCSK9
NextGeneDx
Familial Hypercholesterolemia
Ref. 2834
3 genes
- APOB
- LDLR
- PCSK9
NextGeneDx
Kallman type I syndrome
Ref. 2512
3 genes
- ANOS1
- CHD7
- FGFR1
NextGeneDx
Leopard syndrome
Ref. 3474
3 genes
- BRAF
- PTPN11
- RAF1
NextGeneDx
Leopard syndrome
Ref. 2854
5 genes
- BRAF
- MAP2K1
- MAP2K2
- PTPN11
- RAF1
NextGeneDx
Li Fraumeni syndrome
Ref. 3739
1 gene
- TP53
NextGeneDx
Marfan syndrome
Ref. 2607
1 gene
- FBN1
NextGeneDx
Marfan syndrome
Ref. 1436
3 genes
- FBN1
- TGFBR1
- TGFBR2
NextGeneDx
Non-compact cardiomyopathy
Ref. 1931
7 genes
- ACTC1
- DTNA
- LDB3
- LMNA
- MYH7
- TAZ
- TNNT2
NextGeneDx
Congenital Myotonia
Ref. 2370
2 genes
- CLCN1
- SCN4A
NextGeneDx
Neurofibromatosis type 1
Ref. 1427
1 gene
- NF1
NextGeneDx
Noonan syndrome
Ref. 2556
7 genes
- BRAF
- KRAS
- NRAS
- PTPN11
- RAF1
- RIT1
- SOS1
NextGeneDx
Noonan syndrome
Ref. 2526
7 genes
- BRAF
- KRAS
- MAP2K1
- NRAS
- PTPN11
- RAF1
- SOS1
NextGeneDx
Imperfect osteogenesis
Ref. 1411
4 genes
- COL1A1
- COL1A2
- CRTAP
- P3H1
NextGeneDx
Imperfect osteogenesis
Ref. 1429
2 genes
- COL1A1
- COL1A2
NextGeneDx
Hereditary pancreatitis
Ref. 3453
5 genes
- CFTR
- CTRC
- PRSS1
- PRSS2
- SPINK1
NextGeneDx
Hereditary pheochromocytoma-paraganglioma
Ref. 3332
9 genes
- MAX
- RET
- SDHA
- SDHAF2
- SDHB
- SDHC
- SDHD
- TMEM127
- VHL
NextGeneDx
Familial Hypokalemic Periodic Paralysis
Ref. 2392
2 genes
- CACNA1S
- SCN4A
NextGeneDx
Polycythemia Vera
Ref. 4113
1 gene
- JAK2
NextGeneDx
Familial Adenomatous Polyposis
Ref. 2568
2 genes
- APC
- MUTYH
NextGeneDx
Familial Adenomatous Polyposis
Ref. 2404
1 gene
- APC
NextGeneDx
Autosomal Dominant Polycystic Kidney Disease
Ref. 3480
3 genes
- GANAB
- PKD1
- PKD2
NextGeneDx
Autosomal Dominant Polycystic Kidney Disease
Ref. 2746
2 genes
- PKD1
- PKD2
NextGeneDx
Autosomal Recessive Polycystic Kidney Disease
Ref. 3801
2 genes
- DZIP1L
- PKHD1
NextGeneDx
Autosomal Recessive Polycystic Kidney Disease
Ref. 1415
1 gene
- PKHD1
NextGeneDx
Pseudoxanthoma Elasticum
Ref. 4235
2 genes
- ABCC6
- ENPP1
NextGeneDx
Pseudoxanthoma Elasticum
Ref. 2361
1 gene
- ABCC6
NextGeneDx
Rendu-Osler-Weber syndrome
Ref. 4321
4 genes
- ACVRL1
- ENG
- GDF2
- SMAD4
NextGeneDx
Rendu-Osler-Weber syndrome
Ref. 2397
3 genes
- ACVRL1
- ENG
- SMAD4
NextGeneDx
Rendu-Osler-Weber syndrome
Ref. 4184
2 genes
- ACVRL1
- ENG
NextGeneDx
Hereditary retinoblastoma
Ref. 4025
1 gene
- RB1
NextGeneDx
Rett syndrome
Ref. 2359
3 genes
- CDKL5
- MECP2
- NTNG1
NextGeneDx
Sotos, syndrome
Ref. 3779
2 genes
- NFIX
- NSD1
NextGeneDx
Sotos, syndrome
Ref. 1981
1 gene
- NSD1
NextGeneDx
Dravet syndrome (Infantile Myoclonic Epilepsy))
Ref. 2470
1 gene
- SCN1A
NextGeneDx
Familial Leiomyomatosis with Renal Carcinoma
Ref. 2600
2 genes
- FH
- WT1
NextGeneDx
Rubinstein-Taybi syndrome
Ref. 3472
2 genes
- CREBBP
- EP300
NextGeneDx
Focal and Segmental Glomerulosclerosis
Ref. 1943
3 genes
- ACTN4
- NPHS1
- NPHS2
NextGeneDx
Primary Pulmonary Hypertension
Ref. 3369
4 genes
- ACVRL1
- BMPR2
- EIF2AK4
- ENG
NextGeneDx
Episodic Ataxia type 2
Ref. 1765
1 gene
- CACNA1A
NextGeneDx
Stargardt syndrome
Ref. 4515
5 genes
- ABCA4
- CNGB3
- ELOVL4
- PROM1
- PRPH2
NextGeneDx
Stargardt syndrome
Ref. 1942
1 gene
- ABCA4
NextGeneDx
Neurodegeneration with cerebral iron accumulation
Ref. 3723
3 genes
- FTL
- PANK2
- VPS13A
NextGeneDx
Fanconi anemia
Ref. 2222
1 gene
- FANCA
NextGeneDx
Usher, síndrome Tipo 2A
Ref. 1983
1 gene
- USH2A
NextGeneDx
Nephrotic syndrome
Ref. 2740
2 genes
- NPHS1
- NPHS2
NextGeneDx
Juvenile Gastrointestinal Polyposis Syndrome (JIPS)
Ref. 2349
2 genes
- BMPR1A
- SMAD4
NextGeneDx
Idiopathic Pulmonary Fibrosis
Ref. 2430
3 genes
- SFTPC
- TERC
- TERT
NextGeneDx
Familial Hemiplegic Migraine
Ref. 1410
3 genes
- ATP1A2
- CACNA1A
- SCN1A
NextGeneDx
Familial Hemiplegic Migraine
Ref. 2508
1 gene
- CACNA1A
NextGeneDx
Congenital Muscular Dystrophy with Merosin Deficiency
Ref. 2126
1 gene
- LAMA2
NextGeneDx
Kabuki syndrome
Ref. 2328
2 genes
- KDM6A
- KMT2D
NextGeneDx
Spastic Ataxia of Charlevoix-Saguenay
Ref. 2199
1 gene
- SACS
NextGeneDx
Frontotemporal dementias
Ref. 3056
2 genes
- GRN
- MAPT
NextGeneDx
Cohen’s syndrome
Ref. 2055
1 gene
- VPS13B
NextGeneDx
Congenital Myasthenia
Ref. 2128
6 genes
- CHAT
- CHRNA1
- CHRNE
- COLQ
- DOK7
- RAPSN
NextGeneDx
Primary Ciliary Dyskinesia
Ref. 3290
1 gene
- DNAH5
NextGeneDx
Amyotrophic Lateral Sclerosis
Ref. 2104
5 genes
- ANG
- C9orf72
- FUS
- SOD1
- TARDBP
NextGeneDx
Ullrich congenital muscular dystrophy
Ref. 2608
3 genes
- COL6A1
- COL6A2
- COL6A3
NextGeneDx
Bethlem myopathy
Ref. 2609
3 genes
- COL6A1
- COL6A2
- COL6A3
NextGeneDx
Nonketotic hyperglycinemia
Ref. 2105
2 genes
- AMT
- GLDC
NextGeneDx
Central core congenital myopathy
Ref. 2630
1 gene
- RYR1
NextGeneDx
Pulmonary surfactant deficiency
Ref. 2465
3 genes
- ABCA3
- SFTPB
- SFTPC
NextGeneDx
Hereditary Prostate Cancer
Ref. 3451
1 gene
- EGFR
NextGeneDx
Mitochondrial diseases
Ref. 2303
1 gene
- MIT
NextGeneDx
CARASIL, syndrome
Ref. 4759
1 gene
- HTRA1
NextGeneDx
Maple syrup disease
Ref. 3363
3 genes
- BCKDHA
- BCKDHB
- DBT
NextGeneDx
Congenital amegakaryocytic thrombocytopenia
Ref. 4562
1 gene
- MPL
NextGeneDx
Generalized arterial calcification of childhood
Ref. 3621
2 genes
- ABCC6
- ENPP1
NextGeneDx
Thrombotic thrombocytopenic purpura (TTP), congenital, due to ADAMTS-13 deficiency
Ref. 4614
1 gene
- ADAMTS13
NextGeneDx
Auto-immune lymphoproliferative syndrome
Ref. 2832
3 genes
- CASP10
- FAS
- FASLG
NextGeneDx
Familial gastrointestinal stromal tumor (GIST)
Ref. 4132
1 gene
- KIT
NextGeneDx
Familial gastrointestinal stromal tumor (GIST)
Ref. 4133
1 gene
- PDGFRA
NextGeneDx
X-linked thrombocytopenia
Ref. 4638
1 gene
- GATA1
NextGeneDx
Autosomal Dominant Nocturnal Frontal Epilepsy
Ref. 2566
4 genes
- CHRNA2
- CHRNA4
- CHRNB2
- CRH
NextGeneDx
Cardio-facio-cutaneous syndrome
Ref. 3475
4 genes
- BRAF
- KRAS
- MAP2K1
- MAP2K2
NextGeneDx
Pitt-Hopkins syndrome
Ref. 2623
1 gene
- TCF4
NextGeneDx
Childhood Epilepsies
Ref. 1922
12 genes
- ARX
- CDKL5
- CHRNA2
- CHRNA4
- CHRNB2
- KCNQ2
- KCNQ3
- PCDH19
- SCN1A
- SCN2A
- SLC2A1
- STXBP1
NextGeneDx
Bartter syndrome
Ref. 1959
2 genes
- KCNJ1
- SLC12A1
NextGeneDx
Diabetes MODY
Ref. 2185
5 genes
- GCK
- HNF1A
- HNF1B
- HNF4A
- PDX1
NextGeneDx
Joubert syndrome
Ref. 2714
13 genes
- AHI1
- ARL13B
- CC2D2A
- CEP290
- CEP41
- INPP5E
- KIF7
- NPHP1
- OFD1
- RPGRIP1L
- TMEM216
- TMEM237
- TMEM67
NextGeneDx
Joubert syndrome
Ref. 3445
9 genes
- AHI1
- ARL13B
- CC2D2A
- CEP290
- INPP5E
- NPHP1
- RPGRIP1L
- TMEM216
- TMEM67
NextGeneDx
Susceptibility to ischemic stroke
Ref. 2296
2 genes
- COL4A1
- COL4A2
NextGeneDx
Non-infantile nephronophthisis
Ref. 2044
5 genes
- CEP290
- GLIS2
- NPHP1
- NPHP4
- RPGRIP1L
NextGeneDx
Multiminicore myopathy
Ref. 2056
2 genes
- RYR1
- SELENON
NextGeneDx
Non-syndromic hearing loss
Ref. 4736
2 genes
- GJB2
- GJB6
NextGeneDx
Ectodermal dysplasia
Ref. 2192
6 genes
- EDA
- EDAR
- EDARADD
- GJB6
- TP63
- WNT10A
NextGeneDx
Progressive familial intrahepatic cholestasis
Ref. 3465
4 genes
- ABCB11
- ABCB4
- ATP8B1
- TJP2
NextGeneDx
Progressive familial intrahepatic cholestasis
Ref. 2076
3 genes
- ABCB11
- ABCB4
- ATP8B1
NextGeneDx
Noonan-like syndrome
Ref. 2464
8 genes
- CBL
- HRAS
- MAP2K1
- MAP2K2
- NRAS
- RIT1
- SHOC2
- SPRED1
NextGeneDx
Noonan-like syndrome
Ref. 3240
5 genes
- CBL
- KRAS
- NF1
- NRAS
- PTPN11
NextGeneDx
Noonan-like syndrome
Ref. 2463
13 genes
- BRAF
- CBL
- HRAS
- KRAS
- MAP2K1
- MAP2K2
- NRAS
- PTPN11
- RAF1
- RIT1
- SHOC2
- SOS1
- SPRED1
NextGeneDx
Noonan-like syndrome
Ref. 3326
6 genes
- CBL
- HRAS
- MAP2K1
- MAP2K2
- SHOC2
- SPRED1
NextGeneDx
Floating-Harbor syndrome
Ref. 2808
1 gene
- SRCAP
NextGeneDx
Pulmonary veno-occlusive disease
Ref. 2717
2 genes
- BMPR2
- EIF2AK4
NextGeneDx
Craniosynostosis
Ref. 2095
5 genes
- EFNB1
- FGFR1
- FGFR2
- FGFR3
- TWIST1
NextGeneDx
Albinism
Ref. 2096
4 genes
- GPR143
- MITF
- OCA2
- TYR
NextGeneDx
Limb-girdle muscular dystrophy type 1
Ref. 2149
4 genes
- CAV3
- DES
- LMNA
- MYOT
NextGeneDx
Retinal macular dystrophy
Ref. 2154
5 genes
- ABCA4
- BEST1
- CDH3
- ELOVL4
- PRPH2
NextGeneDx
Spastic paraplegia
Ref. 2809
4 genes
- ATL1
- SPAST
- SPG11
- SPG7
NextGeneDx
Small fiber neuropathy linked to sodium channelopathies
Ref. 3810
2 genes
- SCN10A
- SCN9A
NextGeneDx
Neurofibromatosis
Ref. 2184
3 genes
- NF1
- NF2
- SPRED1
NextGeneDx
Neurofibromatosis
Ref. 2669
2 genes
- NF1
- NF2
NextGeneDx
Neurofibromatosis
Ref. 3080
2 genes
- NF1
- SPRED1
NextGeneDx
Mandibulofacial dysostosis, syndrome
Ref. 4499
7 genes
- EDNRA
- PDE4D
- POLR1A
- POLR1C
- POLR1D
- PRKAR1A
- TCOF1
NextGeneDx
Schwannomatosis
Ref. 2504
4 genes
- LZTR1
- NF1
- NF2
- SMARCB1
NextGeneDx
Schwannomatosis
Ref. 4366
2 genes
- LZTR1
- SMARCB1
NextGeneDx
Bilateral striato-pallidum-dentate calcinosis
Ref. 3510
2 genes
- PDGFRB
- SLC20A2
NextGeneDx
Parkinson’s disease
Ref. 2490
3 genes
- LRRK2
- PRKN
- SNCA
NextGeneDx
Parkinson’s disease
Ref. 3324
2 genes
- LRRK2
- PRKN
NextGeneDx
Parkinson’s disease
Ref. 2759
4 genes
- LRRK2
- PARK7
- PINK1
- PRKN
NextGeneDx
Somatic thrombocythemia
Ref. 4128
1 gene
- CALR
NextGeneDx
Opitz-Kaveggia syndrome
Ref. 3119
1 gene
- MED12
NextGeneDx
Kidney agenesis
Ref. 3374
3 genes
- FGF20
- ITGA8
- RET
NextGeneDx
Panhypopituitarism
Ref. 2828
6 genes
- HESX1
- LHX3
- LHX4
- POU1F1
- PROP1
- SOX3
NextGeneDx
Alzheimer’s and frontotemporal dementia
Ref. 2837
4 genes
- APP
- C9orf72
- PSEN1
- PSEN2
NextGeneDx
BOS/BOR syndrome
Ref. 4494
3 genes
- EYA1
- SIX1
- SIX5
NextGeneDx
Familial kidney cancer
Ref. 3822
5 genes
- FH
- FLCN
- MET
- SDHB
- VHL
NextGeneDx
Familial kidney cancer
Ref. 2967
4 genes
- FH
- FLCN
- MET
- VHL
NextGeneDx
Piebaldism
Ref. 3450
2 genes
- KIT
- SNAI2
NextGeneDx
Polycystic kidney disease
Ref. 3856
5 genes
- DZIP1L
- GANAB
- PKD1
- PKD2
- PKHD1
NextGeneDx
West, síndrome
Ref. 3620
3 genes
- ARX
- CDKL5
- SPTAN1
NextGeneDx
Overgrowth, Syndromes
Ref. 4757
2 genes
- PIK3CA
- TEK
NextGeneDx
Overgrowth, Syndromes
Ref. 4575
1 gene
- PIK3CA
NextGeneDx
Waldenstrom’s macroglobulinemia
Ref. 4283
1 gene
- CXCR4
NextGeneDx
Waldenstrom’s macroglobulinemia
Ref. 4170
1 gene
- MYD88
NextGeneDx
Waldenstrom’s macroglobulinemia
Ref. 4292
1 gene
- MYD88
NextGeneDx
Somatic myelodysplastic syndrome
Ref. 4179
1 gene
- SF3B1
NextGeneDx
Somatic myelodysplastic syndrome
Ref. 4180
1 gene
- SF3B1
NextGeneDx
AML
Ref. 4183
1 gene
- CEBPA
NextGeneDx
AML
Ref. 4181
1 gene
- NPM1
NextGeneDx
Cutaneous mastocytosis
Ref. 4296
1 gene
- KIT
NextGeneDx
Epilepsy, hearing loss and mental retardation syndrome
Ref. 4751
1 gene
- SPATA5
NextGeneDx
Myeloid Myelodysplasias
Ref. 10078
1 gene
- CSF3R