DNA icon

Non-Immune Hydrops Fetalis Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
12661 ACAD9 81479,81479 Order Options and Pricing
ADAMTS3 81479,81479
AHCY 81479,81479
ALG1 81479,81479
ALG12 81479,81479
ALG8 81479,81479
ALG9 81479,81479
ALPK3 81479,81479
ASAH1 81479,81479
BRAF 81406,81479
BSND 81479,81479
CANT1 81479,81479
CBL 81479,81479
CCBE1 81479,81479
CDAN1 81479,81479
CELSR1 81479,81479
CEP55 81479,81479
CHD7 81407,81479
CHRNA1 81479,81479
CHRND 81479,81479
CHRNG 81479,81479
COG6 81479,81479
COL2A1 81479,81479
CTSA 81479,81479
DHCR24 81479,81479
DHCR7 81405,81479
DNAH9 81479,81479
EBP 81479,81479
ENPP1 81479,81479
EPHB4 81479,81479
FAT4 81479,81479
FGFR3 81479,81479
FIG4 81406,81479
FLT4 81479,81479
FOXC2 81479,81479
FOXP3 81479,81479
FRAS1 81479,81479
FREM2 81479,81479
G6PD 81249,81479
GAA 81406,81479
GALC 81479,81479
GALNS 81479,81479
GATA1 81479,81479
GBA 81479,81479
GBE1 81479,81479
GLA 81405,81479
GLB1 81479,81479
GLUL 81479,81479
GNPTAB 81479,81479
GRIP1 81479,81479
GUSB 81479,81479
HADH 81479,81479
HADHA 81406,81479
HADHB 81406,81479
HBA1 and HBA2 81259,81269
HRAS 81404,81479
IDUA 81406,81479
KAT6B 81479,81479
KCNJ1 81404,81479
KCNJ2 81403,81479
KDM6A 81479,81479
KIAA0586 81479,81479
KIF23 81479,81479
KLF1 81479,81479
KLHL40 81479,81479
KMT2D 81479,81479
KRAS 81405,81479
LBR 81479,81479
LIPA 81479,81479
LZTR1 81479,81479
MAP2K1 81406,81479
MAP2K2 81406,81479
MGAT2 81479,81479
MID1 81479,81479
MVK 81479,81479
MYH3 81479,81479
MYOM1 81479,81479
MYRF 81479,81479
NEB 81408,81479
NEK1 81479,81479
NEU1 81479,81479
NEXN 81479,81479
NPC1 81406,81479
NPC2 81404,81479
NRAS 81479,81479
PEX1 81479,81479
PEX10 81479,81479
PEX12 81479,81479
PEX13 81479,81479
PEX14 81479,81479
PEX16 81479,81479
PEX19 81479,81479
PEX2 81479,81479
PEX26 81479,81479
PEX3 81479,81479
PEX5 81479,81479
PEX6 81479,81479
PEX7 81479,81479
PHGDH 81479,81479
PIEZO1 81479,81479
PIGA 81479,81479
PKLR 81405,81479
PMM2 81479,81479
PSAT1 81479,81479
PTH1R 81479,81479
PTPN11 81406,81479
RAF1 81406,81479
RASA1 81479,81479
RIT1 81479,81479
RPL11 81479,81479
RPL15 81479,81479
RPL27 81479,81479
RPL35A 81479,81479
RPL5 81479,81479
RPS10 81479,81479
RPS17 81479,81479
RPS19 81405,81479
RPS24 81479,81479
RPS26 81479,81479
RPS27 81479,81479
RPS29 81479,81479
RPS7 81479,81479
RYR1 81408,81479
SCN5A 81407,81479
SEC23B 81479,81479
SF3B4 81479,81479
SGPL1 81479,81479
SHOC2 81405,81479
SLC12A1 81407,81479
SLC17A5 81479,81479
SLC22A5 81405,81479
SLC26A2 81479,81479
SMPD1 81479,81479
SOS1 81406,81479
SOS2 81479,81479
SOX18 81479,81479
STAT3 81479,81479
SUMF1 81479,81479
SUZ12 81479,81479
TAFAZZIN 81406,81479
TALDO1 81479,81479
TAPT1 81479,81479
TRIP11 81479,81479
UROS 81479,81479
WAC 81479,81479
WDR35 81479,81479
ZEB2 81405,81404
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12661Genes x (148)81479 81249(x1), 81259(x1), 81269(x1), 81403(x1), 81404(x4), 81405(x8), 81406(x13), 81407(x3), 81408(x2), 81479(x260) $1240 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 Custom Panel tool.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn 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

  • Megan Piazza, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Hydrops fetalis is a condition characterized by abnormal fluid accumulation in fetal soft tissues and serous cavities. The overall incidence of hydrops fetalis is ~1/3,000 to 1/1,700 pregnancies (Norton et al. 2015. PubMed ID: 25557883; Sohan et al. 2001. PubMed ID: 11531615). Hydrops fetalis is broken into two subgroups: immune hydrops fetalis which is caused by red cell alloimmunization (RhD) and non-immune hydrops fetalis (NIHF). Immune hydrops fetalis accounts for ~10-13% of all cases of hydrops and non-immune hydrops fetalis accounts for ~87-90% of all cases of hydrops (Norton et al. 2015. PubMed ID: 25557883; Sohan et al. 2001. PubMed ID: 11531615; Bellini et al. 2009. PubMed ID: 19334091). The use of Rh(D) immune globulin has dramatically decreased the prevalence of RhD alloimmunization and subsequently associated hydrops.

The pathogenesis of NIHF is incompletely understood, however the main cause of the abnormal fluid accumulation is dysregulation of the net fluid movement between the vascular and interstitial spaces (Bellini et al. 2012. PubMed ID: 22302731). NIHF may be diagnosed anytime during pregnancy during a routine sonography or during a workup for decreased fetal movement, abnormal results on an antepartum fetal exam, or uterine size greater than expected. A clinical diagnosis of NIHF may be made when ultrasound findings indicate two or more of the following: ascites, pleural effusion, pericardial effusion, or skin edema (>5mm) (Bellini et al. 2012. PubMed ID: 22302731). Other findings consistent with NIHF include placental thickening, defined as ≥4 cm in the 2nd trimester or >5 cm in the 3rd trimester, and polyhydramnios (~75% of pregnancies with NIHF) (Norton et al. 2015. PubMed ID: 25557883).

The advantages of testing include identifying a disorder that may be treatable in utero, altering pregnancy or delivery management, and providing recurrence risk for future reproductive planning. The overall morbidity, mortality, and recurrence risk associated with NIHF varies widely and is determined by the underlying etiology (Crawford et al. 1988. PubMed ID: 3407692; Mardy et al. 2019. PubMed ID: 31087399; Norton et al. 2015. PubMed ID: 25557883). However, the overall perinatal mortality rate is estimated to be ~50-98% (Castillo et al. 1986. PubMed ID: 3532802; Sohan et al. 2001. PubMed ID: 11531615; Santo et al. 2011. PubMed ID: 21268039).

Genetics

NIHF may be associated with chromosomal anomalies, single gene disorders, complex disorders resulting from the interaction of multiple genes, or environmental exposures (Norton et al. 2015. PubMed ID: 25557883). Mendelian forms of NIHF may be inherited in an autosomal dominant (AD), autosomal recessive (AR), and X-linked manner, or arise de novo.

The etiology of NIHF may be grouped into several large categories. Cardiovascular anomalies may account for up to 17-35% of NIHF cases and include structural anomalies, arrhythmias, and vascular abnormalities (Norton et al. 2015. PubMed ID: 25557883; Bellini et al. 2009. PubMed ID: 19334091). Thoracic and lymphatic abnormalities may account for ~10% of NIHF cases and may include congenital pulmonary airway malformations and diaphragmatic hernia (Norton et al. 2015. PubMed ID: 25557883). Severe fetal anemia accounts for ~4-12% of cases of NIHF (Mardy et al. 2019. PubMed ID: 31087399). Inborn errors of metabolism are a heterogeneous group of autosomal recessive disorders that account for ~1-2% of NIHF (Norton et al. 2015. PubMed ID: 25557883). Musculoskeletal anomalies, genitourinary and gastrointestinal malformations, placental and umbilical cord lesions, and fetal tumors account for a small proportion of NIHF (Norton et al. 2015. PubMed ID: 25557883). Several genetic syndromes have also been associated with NIHF and account for ~5-10% of all cases (Laterre et al. 2018. PubMed ID: 29500832).

Chromosomal anomalies have been reported in cases of NIHF and may account for ~7-16% of all NIHF cases (Norton et al. 2015. PubMed ID: 25557883). The most common aneuploidies seen in NIHF include Turner syndrome (~42-67%), Trisomy 21 (~23-30%), and Trisomy of chromosomes 13 or 18 (~10%) (Machin et al. 1989. PubMed ID: 2688420).

Non-genetic factors may also be causative of NIHF. The most common is parvovirus B19, responsible for 5-10% of NIHF (Norton et al. 2015. PubMed ID: 25557883). In addition, disorders unique to twin gestations, such as twin-to-twin transfusion syndrome and twin reversed arterial perfusion, may be causative of NIHF (Machin et al. 1989. PubMed ID: 2688420; Mardy et al. 2019. PubMed ID: 31087399).

See individual gene summaries for information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the clinical and genetic heterogeneity of the disorders tested in this panel; the clinical sensitivity of this specific grouping of genes is difficult to estimate. It is estimated that 17-35% of cases are due to cardiovascular anomalies, ~10% to thoracic and lymphatic abnormalities, ~4-12% to fetal anemia, ~1-2% to inborn errors of metabolism, and a small proportion to musculoskeletal anomalies, genitourinary and gastrointestinal malformations (Bellini et al. 2009. PubMed ID: 19334091; Santo et al. 2011. PubMed ID: 21268039; Norton et al. 2015. PubMed ID: 25557883; Mardy et al. 2019. PubMed ID: 31087399). Up to 5-10% of all cases are due to genetic syndromes (Laterre et al. 2018. PubMed ID: 29500832). In addition, up to ~7-16% of NIHF cases are due to chromosomal anomalies (Machin et al. 1989. PubMed ID: 2688420; Norton et al. 2015. PubMed ID: 25557883).

Overall, the etiology of NIHF may be determined in ~60-85% of cases, while the remaining cases are considered idiopathic (Bellini et al. 2009. PubMed ID: 19334091; Bellini et al. 2009. PubMed ID: 19334092).

Testing Strategy

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

This panel typically provides 97.9% 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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Due to the complexity of the SUZ12 gene, exons 1-9 will not be reported in this panel.

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for testing include individuals with a suspected or clinical diagnosis of non-immune hydrops fetalis. This includes individuals with ultrasound findings of ascites, pleural effusion, pericardial effusion, or edema in which red cell alloimmunization has been ruled out.

Genes

Official Gene Symbol OMIM ID
ACAD9 611103
ADAMTS3 605011
AHCY 180960
ALG1 605907
ALG12 607144
ALG8 608103
ALG9 606941
ALPK3 617608
ASAH1 613468
BRAF 164757
BSND 606412
CANT1 613165
CBL 165360
CCBE1 612753
CDAN1 607465
CELSR1 604523
CEP55 610000
CHD7 608892
CHRNA1 100690
CHRND 100720
CHRNG 100730
COG6 606977
COL2A1 120140
CTSA 613111
DHCR24 606418
DHCR7 602858
DNAH9 603330
EBP 300205
ENPP1 173335
EPHB4 600011
FAT4 612411
FGFR3 134934
FIG4 609390
FLT4 136352
FOXC2 602402
FOXP3 300292
FRAS1 607830
FREM2 608945
G6PD 305900
GAA 606800
GALC 606890
GALNS 612222
GATA1 305371
GBA 606463
GBE1 607839
GLA 300644
GLB1 611458
GLUL 138290
GNPTAB 607840
GRIP1 604597
GUSB 611499
HADH 601609
HADHA 600890
HADHB 143450
HBA1 141800
HBA2 141850
HRAS 190020
IDUA 252800
KAT6B 605880
KCNJ1 600359
KCNJ2 600681
KDM6A 300128
KIAA0586 610178
KIF23 605064
KLF1 600599
KLHL40 615340
KMT2D 602113
KRAS 190070
LBR 600024
LIPA 613497
LZTR1 600574
MAP2K1 176872
MAP2K2 601263
MGAT2 602616
MID1 300552
MVK 251170
MYH3 160720
MYOM1 603508
MYRF 608329
NEB 161650
NEK1 604588
NEU1 608272
NEXN 613121
NPC1 607623
NPC2 601015
NRAS 164790
PEX1 602136
PEX10 602859
PEX12 601758
PEX13 601789
PEX14 601791
PEX16 603360
PEX19 600279
PEX2 170993
PEX26 608666
PEX3 603164
PEX5 600414
PEX6 601498
PEX7 601757
PHGDH 606879
PIEZO1 611184
PIGA 311770
PKLR 609712
PMM2 601785
PSAT1 610936
PTH1R 168468
PTPN11 176876
RAF1 164760
RASA1 139150
RIT1 609591
RPL11 604175
RPL15 604174
RPL27 607526
RPL35A 180468
RPL5 603634
RPS10 603632
RPS17 180472
RPS19 603474
RPS24 602412
RPS26 603701
RPS27 603702
RPS29 603633
RPS7 603658
RYR1 180901
SCN5A 600163
SEC23B 610512
SF3B4 605593
SGPL1 603729
SHOC2 602775
SLC12A1 600839
SLC17A5 604322
SLC22A5 603377
SLC26A2 606718
SMPD1 607608
SOS1 182530
SOS2 601247
SOX18 601618
STAT3 102582
SUMF1 607939
SUZ12 606245
TAFAZZIN 300394
TALDO1 602063
TAPT1 612758
TRIP11 604505
UROS 606938
WAC 615049
WDR35 613602
ZEB2 605802
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3-Methylglutaconic Aciduria Type 2 XL 302060
Achondrogenesis Type 2 AD 200610
Achondrogenesis, Type Ia AR 200600
Achondrogenesis, Type Ib AR 600972
Achondroplasia AD 100800
Acrofacial Dysostosis 1, Nager Type AD 154400
Adenosine Triphosphate, Elevated, Of Erythrocytes AD 102900
Aml - Acute Myeloid Leukemia 601626
Amyotrophic Lateral Sclerosis Type 11 AD 612577
Amyotrophic lateral sclerosis, susceptibility to, 24 AD 617892
Andersen Tawil Syndrome AD 170390
Arterial Calcification Of Infancy AR 208000
Arteriovenous Malformations Of The Brain 108010
Arthrogryposis, distal, type 2B3 (Sheldon-Hall) AD 618436
Arthrogryposis, Distal, Type 8 AD 178110
Atelosteogenesis, Type II AR 256050
Atrial Fibrillation, Familial, 10 AD 614022
Atrial Fibrillation, Familial, 9 AD 613980
Autoimmune Disease, Multisystem, Infantile-Onset, 1 AD 615952
Avascular Necrosis Of Femoral Head, Primary AD 608805
Bartter Syndrome Antenatal Type 1 AR 601678
Bartter Syndrome Antenatal Type 2 AR 241200
Bartter Syndrome Type 4 AR 602522
Basal Cell Carcinoma, Multiple 605462
Bladder Cancer 109800
Blood Group--Lutheran Inhibitor 111150
Brugada Syndrome 1 AD 601144
Camptodactyly, Tall Stature, And Hearing Loss Syndrome AR 610474
Capillary Malformation-Arteriovenous Malformation AD 608354
Capillary malformation-arteriovenous malformation 2 AD 618196
Carbohydrate-Deficient Glycoprotein Syndrome Type II AR 212066
Cardiac-urogenital syndrome AD 618280
Cardio-Facio-Cutaneous Syndrome AD 115150
Cardiofaciocutaneous syndrome 2 615278
Cardiofaciocutaneous syndrome 3 615279
Cardiofaciocutaneous syndrome 4 615280
Cardiomyopathy, dilated, 1NN AD 615916
Cardiomyopathy, familial hypertrophic 27 AR 618052
Central Core Disease AR 117000
Cervical Cancer 603956
Charcot-Marie-Tooth Disease, Type 4J AR 611228
CHARGE Association AD 214800
Chondrodysplasia Blomstrand Type AR 215045
Chondrodysplasia Punctata 2 X-Linked Dominant XL 302960
Ciliary dyskinesia, primary, 40 AR 618300
Cole Disease AD 615522
Complete Trisomy 21 Syndrome 190685
Congenital Disorder Of Glycosylation Type 1A AR 212065
Congenital Disorder Of Glycosylation Type 1G AR 607143
Congenital Disorder Of Glycosylation Type 1H AR 608104
Congenital Disorder Of Glycosylation Type 1K AR 608540
Congenital Disorder Of Glycosylation Type 1L AR 608776
Congenital Disorder of Glycosylation Type IIl AR 614576
Contractures, pterygia, and variable skeletal fusions syndrome 1B AR 618469
Costello Syndrome AD 218040
Cowden syndrome 7 AD 616858
Cranioectodermal Dysplasia 2 AR 613610
Crouzon Syndrome With Acanthosis Nigricans AD 612247
Cryptophthalmos, unilateral or bilateral, isolated AR 123570
Czech Dysplasia Metatarsal Type AD 609162
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase AR 231530
Deficiency Of Transaldolase AR 606003
Desanto-Shinawi syndrome AD 616708
Desbuquois Syndrome AR 251450
Desmosterolosis AR 602398
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Diamond-Blackfan Anemia 1 AD 105650
Diamond-Blackfan Anemia 10 AD 613309
Diamond-Blackfan Anemia 12 AD 615550
Diamond-Blackfan anemia 13 AD 615909
Diamond-Blackfan anemia 16 AD 617408
Diamond-Blackfan anemia 17 AD 617409
Diamond-Blackfan Anemia 3 AD 610629
Diamond-Blackfan Anemia 4 AD 612527
Diamond-Blackfan Anemia 5 AD 612528
Diamond-Blackfan Anemia 6 AD 612561
Diamond-Blackfan Anemia 7 AD 612562
Diamond-Blackfan Anemia 8 AD 612563
Diamond-Blackfan Anemia 9 AD 613308
Diastrophic Dysplasia AR 222600
Dilated Cardiomyopathy 1CC AD 613122
Dilated Cardiomyopathy 1E AD 601154
Distichiasis-Lymphedema Syndrome AD 153400
Dyserythropoietic Anemia, Congenital, Type Ia AR 224120
Dyserythropoietic Anemia, Congenital, Type II AR 224100
Dyserythropoietic Anemia, Congenital, Type IV AD 613673
Eiken Skeletal Dysplasia AR 600002
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization AD 618113
Epidermal Nevus 162900
Epiphyseal dysplasia, multiple, 7 AR 617719
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness AD 132450
Escobar Syndrome AR 265000
Fabry's Disease XL 301500
Failure Of Tooth Eruption, Primary AD 125350
Familial Cancer Of Breast 114480
Familial Colorectal Cancer 114500
Familial Hypertrophic Cardiomyopathy 20 AD 613876
Farber's Lipogranulomatosis AR 228000
Fetal Hemoglobin Quantitative Trait Locus 6 613566
Fraser Syndrome AR 219000
Fraser Syndrome 2 AR 617666
Fraser Syndrome 3 AR 617667
Freeman-Sheldon Syndrome AD 193700
Galactosialidosis AR 256540
Galactosylceramide Beta-Galactosidase Deficiency AR 245200
Gangliosidosis GM1 Type 3 AR 230650
GATA-1-Related Thrombocytopenia With Dyserythropoiesis XL 300367
Gaucher Disease, Perinatal Lethal AR 608013
Gaucher Disease, Type 1 AR 230800
Gaucher Disease, Type II AR 230900
Gaucher Disease, Type III AR 231000
Gaucher Disease, Type IIIc AR 231005
Genitopatellar Syndrome AD 606170
Gillessen-Kaesbach-Nishimura syndrome AR 263210
Glutamine Deficiency, Congenital AR 610015
Glycogen Storage Disease Type II AR 232300
Glycogen Storage Disease Type IV AR 232500
Greenberg Dysplasia AR 215140
Heimler syndrome 1 AR 234580
Heimler syndrome 2 AR 616617
Hemangioma, Capillary Infantile 602089
Hemolytic anemia due to G6PD deficiency XL 300908
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 AR 616006
Hennekam lymphangiectasia-lymphedema syndrome 3 AR 618154
Hennekam Syndrome AR 235510
Hereditary Diffuse Gastric Cancer 137215
Hereditary Gingival Fibromatosis AD 135300
Hereditary Lymphedema Type I AD 153100
Hurler Syndrome AR 607014
Hyperimmunoglobulin D With Periodic Fever AR 260920
Hyperimmunoglobulin E Syndrome AD 147060
Hyperinsulinemic Hypoglycemia, Familial, 4 AR 609975
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency AR 613752
Hypochondroplasia AD 146000
Hypophosphatemic Rickets, Autosomal Recessive, 2 AR 613312
Hypotrichosis-Lymphedema-Telangiectasia Syndrome AR 607823
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome AD 137940
I Cell Disease AR 252500
Imagawa-Matsumoto syndrome AD 618786
Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked XL 304790
Infantile Gm1 Gangliosidosis AR 230500
Joubert Syndrome 23 AR 616490
Juvenile GM1 Gangliosidosis AR 230600
Juvenile Myelomonocytic Leukemia 607785
Kabuki Syndrome 1 AD 147920
Kabuki Syndrome 2 XL 300867
Kallmann Syndrome 5 AD 612370
Kniest Dysplasia AD 156550
Lacrimoauriculodentodigital Syndrome AD 149730
Legg-Calve-Perthes Disease AD 150600
LEOPARD Syndrome AD 151100
LEOPARD Syndrome 2 611554
LEOPARD Syndrome 3 AD 613707
Lethal Multiple Pterygium Syndrome AR 253290
Lewy Body Dementia AD 127750
Long QT Syndrome 3 AD 603830
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency AR 609016
Lung Cancer 211980
Lymphatic malformation 7 AD 617300
Lymphedema, Hereditary, III AR 616843
Lysosomal Acid Lipase Deficiency AR 278000
Malaria, Susceptibility To Malaria, Resistance To, Included 611162
Malignant Hyperthermia AD 145600
MEND Syndrome XL 300960
Metachondromatosis AD 156250
Metaphyseal Chondrodysplasia, Jansen Type AD 156400
Mevalonic Aciduria AR 610377
Minicore Myopathy With External Ophthalmoplegia AR 255320
Mitochondrial Complex I Deficiency due to ACAD9 Deficiency AR 611126
Morquio Syndrome A AR 253000
Mowat-Wilson Syndrome AD 235730
Mucopolysaccharidosis Type VII AR 253220
Mucopolysaccharidosis, MPS-I-H/S AR 607015
Mucopolysaccharidosis, MPS-I-S AR 607016
Mucopolysaccharidosis, MPS-IV-B AR 253010
Muenke Syndrome AD 602849
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly AR 236500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 XL 300868
Multiple Epiphyseal Dysplasia 4 AR 226900
Multiple Sulfatase Deficiency AR 272200
Myasthenic syndrome, congenital, 3A, slow-channel AD 616321
Myasthenic syndrome, congenital, 3B, fast-channel AR 616322
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency AR 616323
Myasthenic Syndrome, Congenital, Fast-Channel AR 608930
Myasthenic Syndrome, Congenital, Slow-Channel AD 601462
Nemaline Myopathy 2 AR 256030
Nemaline Myopathy 8 AR 615348
Nephrotic Syndrome, Type 14 AR 617575
Neu-Laxova syndrome 1 AR 256520
Neu-Laxova syndrome 2 AR 616038
Neurocutaneous melanosis, somatic 249400
Niemann-Pick Disease Type C1 AR 257220
Niemann-Pick Disease Type C2 AR 607625
Niemann-Pick Disease, Type A AR 257200
Niemann-Pick Disease, Type B AR 607616
Noonan Syndrome 1 AD 163950
Noonan Syndrome 10 AD 616564
Noonan syndrome 2 AR 605275
Noonan Syndrome 3 AD 609942
Noonan Syndrome 4 AD 610733
Noonan Syndrome 5 AD 611553
Noonan Syndrome 6 AD 613224
Noonan Syndrome 7 AD 613706
Noonan Syndrome 8 AD 615355
Noonan Syndrome 9 AD 616559
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia AD 613563
Noonan-Like Syndrome With Loose Anagen Hair AD 607721
Obesity AR 601665
Oculoectodermal syndrome, somatic 600268
Opitz G/BBB Syndrome, Type I XL 300000
Osteoarthritis With Mild Chondrodysplasia AD 604864
Osteochondrodysplasia AR 184260
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type AR 616897
Pancreatic Cancer 260350
Parkinson's Disease AD 168600
Paroxysmal Familial Ventricular Fibrillation 603829
Paroxysmal Nocturnal Hemoglobinuria 300818
Pelger-Huet Anomaly AD 169400
Pelger-Huet anomaly with mild skeletal anomalies 618019
Peroxisome biogenesis disorder 10A (Zellweger) AR 614882
Peroxisome biogenesis disorder 10B AR 617370
Peroxisome biogenesis disorder 11A (Zellweger) AR 614883
Peroxisome biogenesis disorder 11B AR 614885
Peroxisome biogenesis disorder 12A (Zellweger) AR 614886
Peroxisome biogenesis disorder 13A (Zellweger) AR 614887
Peroxisome biogenesis disorder 1A (Zellweger) AR 214100
Peroxisome biogenesis disorder 1B (NALD/IRD) AR 601539
Peroxisome biogenesis disorder 2A (Zellweger) AR 214110
Peroxisome biogenesis disorder 2B AR 202370
Peroxisome biogenesis disorder 3A (Zellweger) AR 614859
Peroxisome biogenesis disorder 3B AR 266510
Peroxisome biogenesis disorder 4A (Zellweger) AR 614862
Peroxisome biogenesis disorder 4B AR 614863
Peroxisome biogenesis disorder 5A (Zellweger) AR 614866
Peroxisome biogenesis disorder 5B AR 614867
Peroxisome biogenesis disorder 6A (Zellweger) AR 614870
Peroxisome biogenesis disorder 6B AR 614871
Peroxisome biogenesis disorder 7A (Zellweger) AR 614872
Peroxisome biogenesis disorder 7B AR 614873
Peroxisome biogenesis disorder 8A, (Zellweger) AR 614876
Peroxisome biogenesis disorder 8B AR 614877
Peroxisome Biogenesis Disorder 9B AR 614879
Phosphoglycerate Dehydrogenase Deficiency AR 601815
Phosphoserine Aminotransferase Deficiency AR 610992
Platyspondylic Lethal Skeletal Dysplasia Torrance Type AD 151210
Polycystic liver disease 3 with or without kidney cysts AD 617874
Polyglucosan body disease, adult form AR 263570
Polymicrogyria, bilateral temporooccipital AR 612691
Porokeratosis, Disseminated Superficial Actinic 1 AD 175900
Porphyria, Congenital Erythropoietic AR 263700
Progressive Familial Heart Block Type 1A AD 113900
Pseudo-Hurler Polydystrophy AR 252600
Pyruvate Kinase Deficiency AR 266200
RAS-Associated Autoimmune Leukoproliferative Disorder 614470
Reynolds Syndrome AD 613471
Rhizomelic Chondrodysplasia Punctata Type 1 AR 215100
Rhizomelic chondrodysplasia punctata, type 5 AR 616716
SADDAN AD 616482
Salla Disease AR 604369
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200
Schwannomatosis 2 AD 615670
Shaheen syndrome AR 615328
Short QT Syndrome 3 609622
Short-rib thoracic dysplasia 14 with polydactyly AR 616546
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly AR 263520
Short-Rib Thoracic Dysplasia 7 with or without Polydactyly AR 614091
Sialic Acid Storage Disease, Severe Infantile Type AR 269920
Sialidosis, Type II AR 256550
Sick Sinus Syndrome 1, Autosomal Recessive AR 608567
Smith-Lemli-Opitz Syndrome AR 270400
Spinal muscular atrophy with progressive myoclonic epilepsy AR 159950
Spitz nevus or nevus spilus, somatic 137550
Spondyloepimetaphyseal Dysplasia Strudwick Type AD 184250
Spondyloepiphyseal Dysplasia Congenita AD 183900
Spondyloepiphyseal Sysplasia, Stanescu Type AD 616583
Spondyloperipheral Dysplasia AD 271700
Stickler Syndrome Type 1 AD 108300
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Sudden Infant Death Syndrome AR 272120
Systemic Carnitine Deficiency AR 212140
Testicular Cancer 273300
Thanatophoric Dysplasia Type 1 AD 187600
Thanatophoric Dysplasia Type 2 AD 187601
Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis XL 314050
Thyroid Cancer, Follicular 188470
Trifunctional Protein Deficiency AR 609015
Van Maldergem Syndrome 2 AR 615546
X-Linked Anemia Without Thromobocytopenia XL 300835
Xerocytosis, Hereditary AD 194380
Young Simpson Syndrome AD 603736
Yunis-Varon Syndrome AR 216340

Related Test

Name
PGxome®

Citations

  • Bellini et al. 2009. PubMed ID: 19334092
  • Bellini et al. 2009. PubMed ID: 19334091
  • Bellini et al. 2012. PubMed ID: 22302731
  • Castillo et al. 1986. PubMed ID: 3532802
  • Crawford et al. 1988. PubMed ID: 3407692
  • Laterre et al. 2018. PubMed ID: 29500832
  • Machin et al. 1989. PubMed ID: 2688420
  • Mardy et al. 2019. PubMed ID: 31087399
  • Norton et al. 2015. PubMed ID: 25557883
  • Santo et al. 2011. PubMed ID: 21268039
  • Sohan et al. 2001. PubMed ID: 11531615

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×

ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
×
Copy Text to Clipboard
×