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