Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
15423 ABCA1 81479,81479 Order Options and Pricing
ABCC6 81479,81479
ACAD9 81479,81479
ACE 81479,81479
ACTA2 81405,81479
ACVRL1 81479,81479
ADA2 81479,81479
ALOX5AP 81479,81479
ALPK1 81479,81479
ALPL 81479,81479
AMACR 81479,81479
APOA1 81479,81479
APP 81406,81479
ASS1 81406,81479
ATP1A2 81406,81479
ATP1A3 81479,81479
ATP5MK 81479,81479
ATP7A 81479,81479
BMPR2 81406,81405
CACNA1A 81185,81479
CBL 81479,81479
CBS 81406,81479
CCM2 81479,81479
CFH 81479,81479
COL1A1 81408,81479
COL1A2 81408,81479
COL3A1 81479,81479
COL4A1 81408,81479
COL4A2 81479,81479
COLGALT1 81479,81479
CPS1 81479,81479
CPT2 81404,81479
CSNK1D 81479,81479
CST3 81479,81479
CTC1 81479,81479
CYP27A1 81479,81479
DOCK8 81479,81479
DYRK1B 81479,81479
ELMO2 81479,81479
ELN 81479,81479
ENG 81406,81405
ENPP1 81479,81479
EPOR 81479,81479
F10 81479,81479
F13A1 81479,81479
F13B 81479,81479
F2 81479,81479
F5 81479,81479
F7 81479,81479
F8 81407,81406
FBN1 81408,81479
FGA 81479,81479
FGB 81479,81479
FGFR1 81405,81479
FGG 81479,81479
FLNA 81479,81479
GDF2 81479,81479
GJA1 81479,81479
GLA 81405,81479
GSN 81479,81479
GUCY1A1 81479,81479
HABP2 81479,81479
HBB 81364,81363
HTR1A 81479,81479
HTRA1 81405,81479
ITGA2 81479,81479
ITGA2B 81479,81479
ITGB3 81479,81479
ITM2B 81479,81479
IVD 81406,81479
JAG1 81407,81406
JAK2 81479,81479
JAM3 81479,81479
KCNA5 81479,81479
KCNJ2 81403,81479
KCNK18 81479,81479
KIF1B 81479,81479
KRAS 81405,81479
KRIT1 81479,81479
LMNA 81406,81479
MAX 81479,81479
MMACHC 81404,81479
MMUT 81406,81479
MTHFR 81479,81479
MYBPC3 81407,81479
MYH11 81408,81479
MYLK 81479,81479
MYORG 81479,81479
NF1 81408,81479
NOS3 81479,81479
NOTCH3 81406,81479
NPPA 81479,81479
OTC 81405,81479
P2RY12 81479,81479
PCCA 81406,81405
PCCB 81406,81479
PCNT 81479,81479
PDCD10 81479,81479
PDE3A 81479,81479
PDE4D 81479,81479
PDGFB 81479,81479
PDGFRB 81479,81479
PEX11B 81479,81479
PGK1 81479,81479
PGM1 81479,81479
PKD1 81407,81479
PLOD3 81479,81479
PMM2 81479,81479
PNP 81479,81479
PRF1 81479,81479
PRKG1 81479,81479
PROC 81479,81479
PROS1 81479,81479
PRRT2 81479,81479
PSEN1 81405,81479
PSEN2 81406,81479
RASA1 81479,81479
RBM8A 81479,81479
RET 81406,81479
RHOBTB2 81479,81479
RNF213 81479,81479
SAMD9 81479,81479
SCN1A 81407,81479
SERPINC1 81479,81479
SERPIND1 81479,81479
SH2B3 81479,81479
SLC19A2 81479,81479
SLC1A3 81479,81479
SLC2A1 81405,81479
SLC2A10 81479,81479
SMAD4 81406,81405
SMARCAL1 81479,81479
SPARC 81479,81479
STIM1 81479,81479
SUOX 81479,81479
TBC1D24 81479,81479
TBK1 81479,81479
TGFB2 81479,81479
TGFB3 81479,81479
TGFBR1 81405,81479
TGFBR2 81405,81479
TLR3 81479,81479
TREX1 81479,81479
TTR 81404,81479
TUBB2B 81479,81479
TWNK 81404,81479
USP18 81479,81479
VHL 81479,81479
WDR62 81407,81479
WFS1 81479,81479
XYLT1 81479,81479
XYLT2 81479,81479
YY1AP1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
15423Genes x (153)81479 81185, 81363, 81364, 81403, 81404, 81405, 81406, 81407, 81408, 81479 $1380 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

This test is aimed at identifying causative variants in genes associated with stroke, cerebral hemorrhage, hemiplegia, and migraine. The main feature that can make disorders associated with these phenotypes difficult to differentiate without additional tests is the potential for weakness and loss of control of one side of the body (either hemiplegia or hemiparesis). These phenotypes may also be co-morbidities in diseases such as brain small vessel disease.

Stroke is one of the foremost causes of long-term disability and mortality worldwide. About 2.5% of adult Americans have reported having a stroke at least once (Benjamin et al. 2019. PubMed ID: 30700139). While several methods have been described to classify strokes and there are several sub-types, the major types can be summarized as ischemic or hemorrhagic (Amarenco et al. 2009. PubMed ID: 19342825). Ischemic stroke occurs when there is some sort of blockage of an artery that prevents blood flow to the brain, resulting in oxygen deprivation. Hemorrhagic stroke results when a blood vessel ruptures in the brain, resulting in damage to the surrounding brain tissue. The vast majority of strokes reported in the United States are ischemic, and in many of these cases, onset of stroke can be attributed to modifiable risk factors (Benjamin et al. 2019. PubMed ID: 30700139).

Mendelian strokes, a group of disorders caused by a single gene, are significantly rarer. The exact incidence for all Mendelian stroke disorders is unknown overall, though the most common of these, CADASIL (cerebral autosomal dominant arteriopathies with subcortical infarcts and leukoencephalopathies) has an average estimated prevalence of 0.0015% in the general population and 0.825% among small-vessel ischemic stroke patients (Chong et al. 2017. PubMed ID: 28679849). Typically, autosomal dominant conditions associated with stroke have adult onset and autosomal recessive conditions have onset in childhood (Dichgans et al. 2019. PubMed ID: 30975520).

Although stroke has rarely been associated with familial hemiplegic migraine (FHM), there is significant phenotypic overlap between stroke and FHM (Jen. 2021. PubMed ID: 20301562). Genetic testing can aid in the differential diagnosis between these disorders. Genetic testing of individuals with a family history or who are known or suspected to have clinical features consistent with hemiplegia, migraine, cerebral hemorrhage, or stroke may help determine risk of an attack, establish preventative measures, guide treatment plans, and estimate prognosis.

Genetics

This panel focuses on genes associated with Mendelian forms of stroke (strokes with a clear genetic component), cerebral hemorrhage, migraine, and hemiplegia. Notably, it includes genes associated with CADASIL (NOTCH3), CARASIL (HTRA1), COL4A1/2-related angiopathies (COL4A1, COL4A2), cerebral amyloid angiopathy (APP, CST3), HERNS (TREX1), and familial hemiplegic migraine (ATP1A2, CACNA1A, SCN1A) amongst others (Jen. 1993. PubMed ID: 20301562; de Boer et al. 1993. PubMed ID: 31536185; Hack et al. 1993. PubMed ID: 20301673; Onodera et al. 1993. PubMed ID: 20437615; Dichgans et al. 2019. PubMed ID: 30975520). The inheritance for the genes varies, and both familial and sporadic (de novo) cases have been reported (Dichgans et al. 2019. PubMed ID: 30975520). Although not determined for all forms of Mendelian stroke, in the case of CADASIL, most cases causative variants in NOTCH3 are found more often in individuals with a family history of stroke rather than sporadic cases, indicating that inherited variants are more common for this disease (Chong et al. 2017. PubMed ID: 28679849). In addition, incomplete penetrance was noted in these families as well, suggesting environmental factors may contribute to disease onset even in Mendelian stroke. To our knowledge, copy number variants have not been conclusively linked with Mendelian forms of stroke.

Function of the gene products for this group of genes varies greatly. The most common biological processes for these genes are blood coagulation, integrin signaling, angiogenesis, and the TGF-beta signaling pathway (PANTHER 16.0). See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity and the significant contribution of environmental factors to complex disease manifestation, it is difficult to estimate the clinical sensitivity of this test. Although the disorders caused by the genes evaluated in this panel are rare, analytical sensitivity should be high because all known pathogenic variants reported in the literature are detectable by sequencing.

Testing Strategy

This test is performed using Next-Generation Sequencing with additional Sanger sequencing as necessary.

This panel typically provides 96.5% average coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome-based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for this test include children and adults who have phenotypes suggestive of hemiplegia, migraine, cerebral hemorrhage, or stroke. In addition, the panel may be considered for individuals with a known or suspected family history of these disorders.

Genes

Official Gene Symbol OMIM ID
ABCA1 600046
ABCC6 603234
ACAD9 611103
ACE 106180
ACTA2 102620
ACVRL1 601284
ADA2 607575
ALOX5AP 603700
ALPK1 607347
ALPL 171760
AMACR 604489
APOA1 107680
APP 104760
ASS1 603470
ATP1A2 182340
ATP1A3 182350
ATP5MK 615204
ATP7A 300011
BMPR2 600799
CACNA1A 601011
CBL 165360
CBS 613381
CCM2 607929
CFH 134370
COL1A1 120150
COL1A2 120160
COL3A1 120180
COL4A1 120130
COL4A2 120090
COLGALT1 617531
CPS1 608307
CPT2 600650
CSNK1D 600864
CST3 604312
CTC1 613129
CYP27A1 606530
DOCK8 611432
DYRK1B 604556
ELMO2 606421
ELN 130160
ENG 131195
ENPP1 173335
EPOR 133171
F10 613872
F13A1 134570
F13B 134580
F2 176930
F5 612309
F7 613878
F8 300841
FBN1 134797
FGA 134820
FGB 134830
FGFR1 136350
FGG 134850
FLNA 300017
GDF2 605120
GJA1 121014
GLA 300644
GSN 137350
GUCY1A1 139396
HABP2 603924
HBB 141900
HTR1A 109760
HTRA1 602194
ITGA2 192974
ITGA2B 607759
ITGB3 173470
ITM2B 603904
IVD 607036
JAG1 601920
JAK2 147796
JAM3 606871
KCNA5 176267
KCNJ2 600681
KCNK18 613655
KIF1B 605995
KRAS 190070
KRIT1 604214
LMNA 150330
MAX 154950
MMACHC 609831
MMUT 609058
MTHFR 607093
MYBPC3 600958
MYH11 160745
MYLK 600922
MYORG 618255
NF1 613113
NOS3 163729
NOTCH3 600276
NPPA 108780
OTC 300461
P2RY12 600515
PCCA 232000
PCCB 232050
PCNT 605925
PDCD10 609118
PDE3A 123805
PDE4D 600129
PDGFB 190040
PDGFRB 173410
PEX11B 603867
PGK1 311800
PGM1 171900
PKD1 601313
PLOD3 603066
PMM2 601785
PNP 164050
PRF1 170280
PRKG1 176894
PROC 612283
PROS1 176880
PRRT2 614386
PSEN1 104311
PSEN2 600759
RASA1 139150
RBM8A 605313
RET 164761
RHOBTB2 607352
RNF213 613768
SAMD9 610456
SCN1A 182389
SERPINC1 107300
SERPIND1 142360
SH2B3 605093
SLC19A2 603941
SLC1A3 600111
SLC2A1 138140
SLC2A10 606145
SMAD4 600993
SMARCAL1 606622
SPARC 182120
STIM1 605921
SUOX 606887
TBC1D24 613577
TBK1 604834
TGFB2 190220
TGFB3 190230
TGFBR1 190181
TGFBR2 190182
TLR3 603029
TREX1 606609
TTR 176300
TUBB2B 612850
TWNK 606075
USP18 607057
VHL 608537
WDR62 613583
WFS1 606201
XYLT1 608124
XYLT2 608125
YY1AP1 607860
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Abdominal obesity-metabolic syndrome 3 AD 615812
Acne Inversa, Familial, 3 AD 613737
Acrodysostosis 2, with or without Hormone Resistance AD 614613
Acromicric Dysplasia AD 102370
Adult Hypophosphatasia AD 146300
Advanced sleep-phase syndrome, familial, 2 AD 615224
Afibrinogenemia, congenital AR 202400
Age-Related Macular Degeneration 11 611953
Age-Related Macular Degeneration 4 610698
Age-Related Macular Degeneration 7 610149
Aicardi-Goutieres Syndrome 1 AD 225750
Alagille Syndrome 1 AD 118450
Alpha-Methylacyl-CoA Racemase Deficiency AR 614307
Alternating Hemiplegia Of Childhood AD 104290
Alternating Hemiplegia of Childhood 2 AD 614820
Alzheimer Disease, Type 3 AD 607822
Alzheimer Disease, Type 4 AD 606889
Alzheimer's Disease AD 104300
Aml - Acute Myeloid Leukemia 601626
Amyloidogenic Transthyretin Amyloidosis AD 105210
Amyloidosis, Finnish Type AD 105120
Andersen Tawil Syndrome AD 170390
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps AD 611773
Antithrombin III Deficiency AD 613118
Aortic Aneurysm, Familial Thoracic 4 AD 132900
Aortic Aneurysm, Familial Thoracic 6 AD 611788
Aortic Aneurysm, Familial Thoracic 7 AD 613780
Aortic Aneurysm, Familial Thoracic 8 AD 615436
Aplastic Anemia 609135
ApoA-I and apoC-III deficiency, combined 618463
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 AD 107970
Arterial Calcification Of Infancy AR 208000
Arterial Calcification, Generalized, of Infancy, 2 AR 614473
Arterial Tortuosity Syndrome AR 208050
Arteriovenous Malformations Of The Brain 108010
Atrial Fibrillation, Familial, 6 AD 612201
Atrial Fibrillation, Familial, 7 AD 612240
Atrial Fibrillation, Familial, 9 AD 613980
Atrial standstill 2 AR 615745
Atrioventricular Septal Defect AD 600309
Atypical Hemolytic-Uremic Syndrome 1 AD 235400
Basal Cell Carcinoma, Multiple 605462
Basal Ganglia Calcification, Idiopathic, 4 AD 615007
Basal Ganglia Calcification, Idiopathic, 5 AD 615483
Basal ganglia cancification, idiopathic, 7, autosomal recessive AR 618317
Basal Laminar Drusen AD 126700
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy AD 181350
Beta Thalassemia, Dominant Inclusion Body Type 603902
Bile Acid Synthesis Defect, Congenital, 4 AR 214950
Bladder Cancer 109800
Bleeding disorder, platelet-type, 16, autosomal dominant AD 187800
Bleeding Disorder, Platelet-Type, 8 AR 609821
Bone Fragility With Contractures, Arterial Rupture, And Deafness AR 612394
Brain small vessel disease 3 AR 618360
Budd-Chiari Syndrome 600880
Caffey Disease AD 114000
Capillary Malformation-Arteriovenous Malformation AD 608354
CAPOS syndrome AD 601338
CARASIL Syndrome AR 600142
Cardiac Valvular Dysplasia, X-Linked XL 314400
Cardiofaciocutaneous syndrome 2 AD 615278
Cardiomyopathy, Dilated, 1U AD 613694
Cardiomyopathy, Dilated, 1V AD 613697
Carnitine Palmitoyltransferase II Deficiency, Infantile AR 600649
Carnitine Palmitoyltransferase II Deficiency, Late-Onset AD 255110
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal AR 608836
Carpal Tunnel Syndrome AD 115430
Cataract 41 AD 116400
Cerebral Amyloid Angiopathy, App-Related AD 605714
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 AD 616779
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy AD 125310
Cerebral Cavernous Malformations 1 AD 116860
Cerebral Cavernous Malformations 2 AD 603284
Cerebral Cavernous Malformations 3 AD 603285
Cerebroretinal Microangiopathy with Calcifications and Cysts AR 612199
Cerebrotendinous Xanthomatosis AR 213700
Charcot-Marie-Tooth Disease Type 2B1 AR 605588
Charcot-Marie-Tooth Disease, Type 2A1 AD 118210
Chilblain Lupus Erythematosus AD 610448
Childhood Hypophosphatasia AR 241510
Citrullinemia Type I AR 215700
Cole Disease AD 615522
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 AD 619115
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 AD 619120
Congenital Central Hypoventilation syndrome AD 209880
Congenital Disorder Of Glycosylation Type 1A AR 212065
Congenital Disorder of Glycosylation Type It AR 614921
Congenital Human Immunodeficiency Virus 609423
Congenital Hyperammonemia, Type I AR 237300
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis AD 602066
Craniometaphyseal dysplasia, autosomal recessive AR 218400
Cutis Laxa, Autosomal Dominant AD 123700
Deafness , autosomal recessive 86 AR 614617
Deafness, Autosomal Dominant 6 AD 600965
Deafness, autosomal dominant 65 AD 616044
Deafness, congenital heart defects, and posterior embryotoxon 617992
Dementia Familial British AD 176500
Dementia, Familial Danish AD 117300
Dermatofibrosarcoma protuberans 607907
Desbuquois Dysplasia 2 AR 615777
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness AR 222300
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Dilated Cardiomyopathy 1A AD 115200
DOOR syndrome AR 220500
Dysfibrinogenemia, congenital 616004
Dystonia 12 AD 128235
Dystonia 9 AD 601042
Dystransthyretinemic Euthyroidal Hyperthyroxinemia AD 145680
Ectopia Lentis, Isolated, Autosomal Dominant AD 129600
Ehlers-Danlos syndrome, arthrochalasia type, 2 AD 617821
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form AR 225320
Ehlers-Danlos Syndrome, Type 4 AD 130050
Ehlers-Danlos Syndrome, Type VIIA and VIIB AD 130060
Emery-Dreifuss muscular dystrophy 3, AR AR 616516
Encephalocraniocutaneous lipomatosis 613001
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 AD 617900
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility To AD 614212
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 AD 614847
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp AR 608105
Epileptic Encephalopathy, Early Infantile, 16 AR 615338
Epileptic Encephalopathy, Early Infantile, 42 AD 617106
Epileptic encephalopathy, early infantile, 64 AD 618004
Episodic Ataxia Type 2 AD 108500
Episodic Ataxia, Type 6 AD 612656
Episodic Kinesigenic Dyskinesia 1 AD 128200
Erythrocytosis 6 617980
Erythrocytosis, Familial, 2 AR 263400
Erythrokeratodermia variabilis et progressiva 3 AD 617525
Esophageal Cancer 133239
Essential Hypertension MF 145500
Essential Thrombocythemia 187950
Fabry's Disease XL 301500
Factor H Deficiency AD 609814
Factor V Deficiency AR 227400
Factor VII Deficiency AR 227500
Factor X Deficiency AR 227600
Factor XIII, A Subunit, Deficiency Of AR 613225
Factor XIII, B Subunit, Deficiency Of AR 613235
Fallot Tetralogy AD 187500
Familial Cancer Of Breast 114480
Familial Erythrocytosis, 1 133100
Familial Hemiplegic Migraine Type 1 AD 141500
Familial Hemiplegic Migraine Type 2 AD 602481
Familial Hemiplegic Migraine Type 3 AD 609634
Familial Hypertrophic Cardiomyopathy 4 AD 115197
Familial Hypoalphalipoproteinemia 604091
Familial Medullary Thyroid Carcinoma AD 155240
Familial Non-Hodgkin Lymphoma 605027
Familial Visceral Amyloidosis, Ostertag Type AD 105200
Fetal Hemoglobin Quantitative Trait Locus 1 AD 141749
FG Syndrome 2 XL 300321
Frontometaphyseal Dysplasia XL 305620
Frontotemporal Dementia AD 600274
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 AD 616439
Geleophysic Dysplasia 2 AD 614185
Generalized Epilepsy With Febrile Seizures Plus, Type 2 AD 604403
Glanzmann's Thrombasthenia AR 273800
Glut1 Deficiency Syndrome 1 AD 606777
Glut1 Deficiency Syndrome 2 AD 612126
Grange syndrome AR 602531
Hartsfield syndrome AD 615465
Heart-Hand Syndrome, Slovenian Type AD 610140
Heinz Body Anemias AD 140700
Hemophagocytic Lymphohistiocytosis, Familial, 2 AR 603553
Hemophilia A, Congenital XL 306700
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts AR 613730
Heparin Cofactor II Deficiency AD 612356
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type AD 105150
Hereditary Diffuse Gastric Cancer 137215
Hereditary Hemorrhagic Telangiectasia Type 2 AD 600376
Hereditary Nonpolyposis Colorectal Cancer Type 6 614331
Herpes Simplex Encephalitis 2 AD 613002
Hirschsprung Disease 1 AD 142623
Homocystinuria Due To Cbs Deficiency AR 236200
Homocystinuria due to MTHFR Deficiency AR 236250
Hutchinson-Gilford Syndrome AD 176670
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive AR 243700
Hypertension and Brachydactyly Syndrome AD 112410
Hypophosphatemic Rickets, Autosomal Recessive, 2 AR 613312
Hypoplastic Left Heart Syndrome AR 241550
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 AR 612783
Infantile Hypophosphatasia AR 241500
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked XL 300048
Ischemic Stroke MF 601367
Isovaleryl-CoA Dehydrogenase Deficiency AR 243500
Jackson-Weiss Syndrome AD 123150
Juvenile Myelomonocytic Leukemia 607785
Juvenile Polyposis Syndrome AD 174900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome AD 175050
Kallmann Syndrome 2 AD 147950
Kosaki overgrowth syndrome AD 616592
Lateral meningocele syndrome AD 130720
Left ventricular noncompaction 10 AD 615396
Lipodystrophy, Familial Partial, Type 2 AD 151660
Loeys-Dietz Syndrome 1 AD 609192
Loeys-Dietz Syndrome 2 AD 610168
Loeys-Dietz Syndrome 4 AD 614816
Loeys-Dietz Syndrome 5 AD 615582
Lung Cancer 211980
Malaria, Susceptibility To Malaria, Resistance To, Included 611162
Malouf Syndrome AD 212112
Mandibuloacral Dysplasia With Type A Lipodystrophy AR 248370
Marfan lipodystrophy syndrome AD 616914
Marfan Syndrome AD 154700
Mass Syndrome AD 604308
Megacystis-microcolon-intestinal hypoperistalsis syndrome AR 249210
Melnick-Needles Syndrome XL 309350
Meningioma, Familial 607174
Menkes Kinky-Hair Syndrome XL 309400
Methemoglobinemia, beta type 617971
Methylmalonic Aciduria and Homocystinuria, cblC Type AR 277400
Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency AR 251000
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant AD 618564
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 AR 210720
Microvascular Complications Of Diabetes 3 612624
Migraine, With Or Without Aura 13 AD 613656
MIRAGE syndrome AD 617053
Mitochondrial Complex I Deficiency due to ACAD9 Deficiency AR 611126
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 AR 618683
Mitochondrial DNA Depletion Syndrome 7 AR 271245
Monosomy 7 myelodysplasia and leukemia syndrome 2 AD 619041
Moyamoya 6 with achalasia AR 615750
Moyamoya Disease 2 AD 607151
Moyamoya Disease 5 614042
Multiple Endocrine Neoplasia, Type 2A AD 171400
Multiple Endocrine Neoplasia, Type 2B AD 162300
Multiple Self Healing Squamous Epithelioma AD 132800
Multisystemic Smooth Muscle Dysfunction Syndrome AD 613834
Muscular Dystrophy, Congenital, LMNA-Related AD 613205
Myelofibrosis 254450
Myeloproliferative Disorder, Chronic, With Eosinophilia AD 131440
Myhre Syndrome AD 139210
Myocardial Infarction 1 608446
Myoclonic Epilepsy, Familial Infantile AR 605021
Myofibromatosis, Infantile, 1 AD 228550
Myofibromatosis, Infantile, 2 AD 615293
Myopathy, tubular aggregate AD 160565
Neural Tube Defects, Folate-Sensitive AR 601634
Neuroblastoma 1 AD 256700
Neurofibromatosis, Familial Spinal AD 162210
Neurofibromatosis, Type 1 AD 162200
Neurofibromatosis-Noonan Syndrome AD 601321
Noonan Syndrome 3 AD 609942
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia AD 613563
Obesity AD 601665
Occipital Horn Syndrome XL 304150
Oculodentodigital Dysplasia AD 164200
Oculodentodigital Dysplasia, Autosomal Recessive AR 257850
Oculoectodermal syndrome, somatic 600268
Ornithine Carbamoyltransferase Deficiency XL 311250
Osler Hemorrhagic Telangiectasia Syndrome AD 187300
Osteogenesis Imperfecta Type III AD 259420
Osteogenesis Imperfecta, Type I AD 166200
Osteogenesis Imperfecta, Type II AD 166210
Osteogenesis Imperfecta, Type IV AD 166220
Osteogenesis Imperfecta, Type XVII AR 616507
Osteoglophonic Dysplasia AD 166250
Osteoporosis AD 166710
Oto-Palato-Digital Syndrome Type 1 XL 311300
Oto-Palato-Digital Syndrome, Type II XL 304120
Palmoplantar keratoderma with congenital alopecia AD 104100
Pancreatic Cancer 260350
Periodic fever, menstrual cycle dependent AD 614674
Peroxisome Biogenesis Disorder 14B AR 614920
Perrault Syndrome 5 AR 616138
Pfeiffer Syndrome AD 101600
Pheochromocytoma AD 171300
Phosphoglycerate Kinase 1 Deficiency XL 300653
Pick's Disease AD 172700
Polyarteritis nodosa, childhood-onset AR 615688
Polycystic Kidney Disease 1 AD 173900
Polycythemia Vera 263300
Polymicrogyria with or without vascular-type EDS AR 618343
Polymicrogyria, Asymmetric AD 610031
Porencephaly 1 AD 175780
Porencephaly 2 AD 614483
Preeclampsia/Eclampsia 1 AD 189800
Premature aging syndrome, Penttinen type AD 601812
Primary Autosomal Recessive Microcephaly 2 AR 604317
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 3 AD 609286
Propionic Acidemia AR 606054
Prothrombin Deficiency, Congenital AR 613679
Pseudo-TORCH syndrome 2 AR 617397
Pseudoxanthoma Elasticum AR 264800
Pseudoxanthoma Elasticum, Forme Fruste AD 177850
Pulmonary Arterial Hypertension AD 178600
Pulmonary hypertension, neonatal, susceptibility to 615371
Pulmonary Veno-Occlusive Disease AD 265450
Purine Nucleoside Phosphorylase Deficiency AR 613179
RAS-Associated Autoimmune Leukoproliferative Disorder 614470
Renal Cell Carcinoma, Nonpapillary 144700
Renal Tubular Dysgenesis AR 267430
Restrictive Dermopathy, Lethal AR 275210
Retinal arteries, tortuosity of AD 180000
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities AD 616079
ROSAH syndrome AD 614979
Schimke Immunoosseous Dysplasia AR 242900
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
Schizophrenia AD 181500
Seizures, Benign Familial Infantile, 2 AD 605751
Severe Myoclonic Epilepsy In Infancy AD 607208
Short QT Syndrome 3 609622
Sickle Cell Anemia AR 603903
Sneddon syndrome AR 182410
Spinal Muscular Atrophy, Distal, X-Linked 3 XL 300489
Spinocerebellar Ataxia 6 AD 183086
Spondyloocular syndrome AR 605822
Stiff Skin Syndrome AD 184900
Stomatin-deficient cryohydrocytosis with neurologic defects AD 608885
Stormorken syndrome AD 185070
Stroke, hemorrhagic 614519
Sulfite Oxidase Deficiency AR 272300
Supravalvar Aortic Stenosis AD 185500
Syndactyly Type 3 AD 186100
Systemic Lupus Erythematosus AD 152700
Tangier Disease AR 205400
Telangiectasia, Hereditary Hemorrhagic, Type 5 AD 615506
Terminal Osseous Dysplasia XL 300244
Thalassemias, beta 613985
Thiamine Responsive Megaloblastic Anemia Syndrome AR 249270
Thrombocythemia 3 AD 614521
Thrombocytopenia-Absent Radius Syndrome AR 274000
Thrombophilia Due To Activated Protein C Resistance AD 188055
Thrombophilia Due to Protein S Deficiency, Autosomal Dominant AD 612336
Thrombophilia Due to Protein S Deficiency, Autosomal Recessive AR 614514
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant AD 176860
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive AR 612304
Thrombosis, Susceptibility To AD 188050
Trigonocephaly, Nonsyndromic AD 190440
Tumoral Calcinosis, Normophosphatemic, Familial AR 610455
Vascular malformation, primary intraosseous AR 606893
Vasculopathy, Retinal, With Cerebral Leukodystrophy AD 192315
Von Hippel-Lindau Syndrome AD 193300
Watson Syndrome AD 193520
Weill-Marchesani Syndrome 2 AD 608328
Wolfram-Like Syndrome, Autosomal Dominant AD 614296
X-Linked Periventricular Heterotopia XL 300049
{?Thyroid cancer, nonmedullary, 5} AD 616535
{Pregnancy loss, recurrent, susceptibility to, 1} AD 614389
{Pregnancy loss, recurrent, susceptibility to, 2} AD 614390

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