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NGS Targeted Gene Panels for Reprogenetics


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Reprogenetics is the utilization of genetics and related technologies for reproduction including the storage and manipulation of the gametes and embryos.

One major part of reprogenetics is the preimplantational genetic diagnosis that is utilized in order to reduce the risk of disorders and hereditary diseases after embryo transfer. Another important application field is the prenatal diagnosis. 

The application of reprogenetics is controversial discussed due to ethical reasons. Reprogenetics should not be considered as the possibility to manipulate the embryos by generating specific genetic characteristics instead it should be used to reduce the risk of hereditary diseases. For more general information we recommend the publication from Roberto Coco (2013) "Reprogenetics: Preimplantational genetics diagnosis".

This website introduces a number of NGS targeted gene panels for the application in reprogenetics including prenatal diagnostics and inheritability screening. General NGS panels for inherited disease screening partially sequence several thousand genes that are associated with hereditary diseases. A majority of the NGS panels listed for reprogenetics focus on the detection of genetic causes for miscarriages. For more information on the targeted genes in the individual NGS gene panels please contact the corresponding provider.


Familial Mutation Testing - NGS Panel

Familial Mutation Testing

The following genes are available:
ACADVL, ACADM, ACVRL1, APC, ASS1, ATP7A, BMPR1A, BMPR2, BTD, CCM1, CCM2, CCM3, CDKL5, CFTR, COL4A5, CYP1B1, ENG, F8, F9, FBN1, G6PD, GALT, GJB2; HBA1, HBA2, HBB, INSR, LMNA, MECP2,MEFV, MEN1, MLH1, MSH2; MSH6, MUTYH, MYH3, NF1, OTC, PLOD1, PMS2; PRSS1, PTEN, PTPN11, RASA1, RET, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SMAD4, SPRED1, SPINK1, SOS1, STK11, TACI, TGFBR1, TGFBR2, UBE3A, VHL, VWF
Source: Arup Laboratories


Inherited Diseases (Comprehensive)- NGS Panels

Ashkenazi Jewish Diseases

In the Ashkenazi Jewish population, some severe and lethal genetic conditions occur with relatively high frequency. Current testing enables the analysis of the genes associated with the following disorders in the Ashkenazi Jewish population: Cystic fibrosis, Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, familial dysautonomia, Torsion dystonia, mucolipidosis type IV, Fanconi anemia, Gaucher disease, factor XI deficiency, glycogen storage disease type 1a, maple syrup urine disease, non-syndromic sensorineural hearing loss, familial mediterranean fever, alpha 1-anti-trypsin deficiency, nemaline myopathy, Usher syndrome type 1F, familial hyperinsulinemia, familial hypercholesterolemia, lipoamide dehydrogenase deficiency, glycogen storage disease type III and Joubert syndrome II.
The panel tests the ABCC8, AGL, ASPA, BCKDHB, BLM, BRCA1, BRCA2, CFTR, CLRN1, CYP21A2, DLD, F11, FANCC, FKTN, GBA, GJB2, G6PC, HEXA, IKBKAP, LCA5, LDLR, LRRK2, MCOLN1, MEFV, MSH2, MSH6, NEB, PCDH15, SERPINA1, SMN1, SMPD1, TMEM216, TOR1A genes.
Source: Asper Biotech

Ashkenazi panel

Targeted genes: GBA (8 mutations), CFTR (26 mut), HEXA (7 mut), IKBKAP (2 mut), ASPA (4 mut), G6PC (2 mut) ABCC8 (2 mut), MCOLN1 (2 mut), BCKDHB (3 mut), FANCC (2 mut), DLD (2 mut), SMPD1 (4 mut), CLRN1 (1 mut), PCDH15 (1mut), BLM (1 mut), NEB (1 mut), BRCA1 (2 mut), BRCA2 (1 mut)

Source: Centogene

Inherited Disease Panel (Novogene)

The panel includes 2742 genes associated with different categories of human genetic diseases. The genes are sequenced using NGS technology to detect the mutations that cause inherited diseases. Pathogenic variants associated with 14 categories of inherited diseases, among them, cardiovascular, nervous system, blood disorder and musculoskeletal disorders are sequenced and analyzed using our bioinformatics expertise. The panel utilizes trio-sequencing, which is a more comprehensive method of identifying mutations and an approach that significantly increases the odds of a definitive result.

Source: Novogene

Ion AmpliSeq™ Inherited Disease Panel

The Ion AmpliSeq™ Inherited Disease Panel provides highly multiplexed target selection of all exons of over genes that are mutated in over 700 unique inherited diseases, according to NCBI ClinVar database (May 2012). Consulting with clinical molecular geneticists involved with inherited disease research, Ion Torrent has designed a single comprehensive inherited disease panel comprising genes implicated in some of the most common Mendelian diseases.
Thermo Fisher

Website

MULTIPLE CONGENITAL ANOMALIES

Many people with inherited syndromes are born with multiple congenital anomalies, or physical differences that make them distinctive. Determining the underlying answer to explain these is often based on recognizing a pattern of congenital anomalies, which can involve multiple organ systems. Ambry offers molecular testing for genetic syndromes that present with these types of characteristics to aid in diagnostic assessment and confirmation.
Source: Ambry Genetics

SureSelect Inherited Disease

This panel is a highly targeted design that enables comprehensive analysis of only those 2,742 genes known to cause inherited disorders. Faster time to sequencing is achieved when coupled with efficient SureSelect workflows that enable greatly reduced hybridization times.
Source: Agilent

Website

TruSight Inherited Disease

TruSight Inherited Disease was initially based on a 448 disease panel designed for preconception carrier testing for severe, recessive childhood diseases published by Dr. Kingsmore and team in Science Translational Medicine1. The original content was revised by Dr. Saunders, FACMG, at CMH (following ACMG guidelines for testing ultra-rare genetic diseases) to reflect the needs of medical geneticists with a primary focus on severe recessive diseases with childhood onset. Intellectual disability genes were added by Dr. Ropers.
Source: Illumina

Website

xGen® Inherited Diseases Panel

The xGen® Inherited Diseases Panel consists of 116,355 individually synthesized and quality controlled xGen Lockdown® Probes designed for targeted enrichment of 4503 genes and 180 SNPs associated with inherited diseases. The panel enables deeper sequencing of these genes, increasing the ability to detect disease-causing mutations. The gene list is based on the HGMD® (Human Gene Mutation Database) repository of known inherited disease-causing mutations and was refined by the Emory Genetics Laboratory at Emory University for clinical significance and relevance.

Source: IDT


Neonatal Testing - NGS Panels

NewbornDx™ test

The NewbornDx™ test is designed to guide the differential diagnosis of common symptomology found in neonates. It allows a physician to utilize one test to provide an accurate molecular profile on 586 newborn related genes using dried blood spots. Physicians no longer need to depend on severe phenotypes to nominate a single gene test for a given disorder.
Source: Parabase Genomics

Website


Prenatal Testing & Reprogenetics - NGS Panels

Anora™ Miscarriage Test

With Anora, Natera has used SNP-technology to develop one of the most accurate tests for identifying chromosomal causes of miscarriage. Approximately 10-20% of pregnancies will end in a miscarriage. Knowing the cause of the miscarriage can go far to reassure patients and help them have a subsequent healthy pregnancy. Anora is able to detect a number of key chromosomal disorders that are not possible to detect with any other existing commercial test, including triploidy and complete paternal uniparental disomy (UPD) – the main cause of complete molar pregnancy – and can also determine parental origin of all aneuploidies.
Source: Natera

Website

CARRIER STATUS DNA INSIGHTTM

Pathway Genomics’ carrier status test provides relevant genetic insights to inform physicians about the health of their patients’ future children. By following the American College of Obstetricians and Gynecologists (ACOG) recommendations, we offer a comprehensive preconception and prenatal carrier screening test.
Source: Pathway

Website

Carrier Testing NGS panel

Genetic carrier testing allows determination of carrier status in family with identified mutation of an autosomal recessive or x-linked disorder.
Source: Asper Biotech
The panel sequences 552 genes.

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (21-hydroxylase insufficiency) is an autosomal recessively inherited disease in case of which cortisol and aldosterone synthesis in adrenal glands is disturbed. The disease manifests clinically during neonatal age causing virilisation and life-threatening salt-loss syndrome. Virilisation in girls manifests as enlargement of clitoris; in severe cases it may be difficult to identify the neonate’s sex. In boys the virilisation is not easily diagnosable, but in them the disease may manifest during the first weeks after birth as adrenal crisis, expressed as hyponatraemia, hyperkalaemia and metabolic acidosis.
Source: Asper Biotech

Targeted genes: CYP17A1, CYP21A2, CYP11B1, HSD3B2, POR, STAR

Female infertility panel

Targeted genes: CYP21A2, FSHR, LHCGR, BMP15, LHB, ZP1, FMR1

Source: Centogene

Global infertility panel

Targeted genes: AR, CATSPER1, CFTR, FSHB, FSHR, HESX1, LHB, LHCGR, NR5A1, POU1F1, SRY/AZF

Source: Centogene

Holoprosencephaly Panel

Holoprosencephaly Panel, Nonsyndromic, Sequencing and Deletion/Duplication, 11 Genes, Fetal
Preferred test for fetuses with HPE that is not caused by a structural or numerical chromosome abnormality.
Targeted genes: DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
Source: Arup Laboratories

Horizon™ Carrier Screen

Horizon screens potential parents for a number of genetic mutations that could affect their children, including those genetic diseases recommended for carrier testing by the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG).
Source: Natera

Website

Human Carrier Testing Panel

The Human Carrier Testing GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of 157 genes mutated in 123 of the most deleterious and most prevalent (at least 5 in one million) recessively (autosomal or X-linked) inherited disorders. Carrier testing checks whether both parents planning to conceive children carry recessive mutations for the same disease(s), which could be inherited by the children.
The classes of inherited diseases represented by this panel include cardiac, cutaneous, deafness, developmental, endocrine, hematologic, immunodeficiency, metabolic, neurological, neuromuscular, ocular, renal, respiratory, and skeletal.
Source: Qiagen

Male infertility panel

Targeted genes: AR, CATSPER1, CFTR, FSHR, LHCGR

Source: Centogene

Panorama screening test

Natera’s Panorama screening test is a highly accurate non-invasive prenatal screening test (NIPT). It is the only commercially available NIPT that utilizes SNPs for its analysis for chromosomal abnormalities, allowing it to distinguish between fetal (placental) and maternal cell-free DNA and thereby delivering higher sensitivities than other tests.
Source: Natera

Website

Prenatal Paternity Test

Paternity can now be safely established before a baby is born with Natera's non-invasive prenatal paternity test. Natera’s test uses a proprietary bioinformatics technology, Parental Support™, proven to provide highly accurate DNA testing results from very small amount of DNA. Natera delivers the only test available to reliably determine paternity from a maternal blood sample as early as nine weeks gestation and requires only a blood draw from the pregnant mother and alleged father(s).
Source: Natera

Website

Skeletal Dysplasia

Skeletal malformations are caused by a number of different hereditary disorders and syndromes resulting from mutations with many genes. The most common syndromes associated with skeletal malformations are achondroplasia, craniosynostosis, campomelic dysplasia, hypochondroplasia.
The test enables simultaneous detection of 25 different syndromes such as achondroplasia, craniosynostosis, campomelic dysplasia, hypochondroplasia, Crouzon syndrome, Apert syndrome, Pfeiffer syndrome etc.
Source: Asper Biotech

Targeted genes: ALPL, COL2A1, ESCO2, FGFR1, FGFR2, FGFR3, ROR2, SLC26A2, SOX9, SRY, TRIP11, WNT5A

Spectrum™ Preimplantation Test

Natera is a leading provider of Preimplantation Genetic Screening/Preimplantation Genetic Diagnosis (PGS/PGD). Using Natera’s patented SNP-technology, Spectrum can perform 24-chromosome aneuploidy screening on a single cell from embryos created during IVF. The test typically returns results with >99% sensitivity on each chromosome identified as having an extra or missing chromosome. This is a common cause of miscarriages and is also known to cause specific syndromes, such as Down syndrome.
Source: Natera

Website


Roberto Coco (2013) "Reprogenetics: Preimplantational genetics diagnosis" |PubMed |


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