PGD + PGS

We present a genetic test specially designed to reduce the risk of having a child with an inherited condition.

What it is

It is a Kit and software package to implement in your laboratory a PGD – PGD+PGS solution by NGS.

Using this kit you will be able to:

Perform In-House and self-sufficient PGD analysis
·
Obtain quick results is possible for fresh transfers
·
Simplify the laboratory routine
·
Access more than 40 validated diseases
·
Order custom design of new monogenic diseases with no setup cost

How it works

Nowadays, next generation sequencing (NGS) is the most effective technique available for the study of the genome. For this reason, it has become an important instrument for preimplantation genetic diagnosis.

It offers comprehensive information concerning aneuploidies, genetic mutations and unbalanced translocations in embryos.

It means a reproductive opportunity for couples who are exposed to an increased risk of having a child with a specific monogenic disorder.

PGD by NGS Technology

PGD test is designed to study monogenic diseases and it is specific to each family

Case Review

The family clinical report arrives at the laboratory.

Panel Design

The panel is designed specifically for the mutation to study.

Informative Study

Blood from both parents and other family members comes at the laboratory and DNA is extracted. Informative study is carried out to know which allele is inherited from each parent.

Embryo Biopsy

Then, the embryos are biopsied on day 3 or 5 by an experienced embryologist.

First Amplification

When the sample arrives at the laboratory, the first amplification begins. In this step, whole genome is amplified.

Second Amplification

A second amplification is performed. This time, just a specific region is amplified.

Sequencing

Library is sequenced, then the results are analyzed with specific software in which each embryo can be diagnosed as affected, carrier or unaffected. This is possible because inherited alleles are known by the previous informative study.

PGD + PGS by NGS Technology

PGD+ PGS can be combined to study chromosomal aneuploidies, copy number variation and monogenic diseases starting from a single biopsy. In addition, multiple samples can be processed together in such a way that the per‑sample sequencing time and cost are minimized.

Case Review

The family clinical report arrives at the laboratory.

Panel Design

The panel is designed specifically for the mutation to study.

Informative Study

Blood from both parents and other family members comes at the laboratory and DNA is extracted. Informative study is carried out to know which allele is inherited from each parent. For it, additionally family member is requested.

Embryo Biopsy

Then, the embryos are biopsied on day 3 or 5 by an experienced embryologist.

First Amplification

When the sample arrives at the laboratory, the first amplification begins. In this step, whole genome is amplified. Part of first amplification is used for PGD.

Second Amplification

A second amplification is performed. This time, just a specific region is amplified.

Sequencing

PGS+PGD libraries are sequenced and the results are analyzed with specific software.
PGD+PGS analysis can be carried out in 24 hours.

Our PGD by NGS Panels

DNA samples from both parents and additional family member are requested to be tested.

PGD-SEQ allows simultaneously detecting different point mutations and different SNPs surrounding it, in this way it eliminates the misdiagnosis risk by ADO phenomenon and diagnoses each embryo as affected, carrier or unaffected.

Panels Available & Customisation

Nowadays there are more than 95 validated panels and we can customize the desired panel for different monogenic diseases

ABCB4 > Intrahepatic cholestasis type 3

ABCB11 > Choleastasis, progressive familial intrahepatic

ABCA3 > Pulmonary surfactant dysfunction due to ABCA3 deficiency

ABCC8, KCNJ11 > Neonatal diabetes mellitus

ABCG5 > Sitosterolemia

ACYL-COA DEHYDROGENASE > ACADM deficiency

ABCD1 >  X-linked adrenoleukodystrophy

ACADVL > Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

ACADM > Medium chain acyl-CoA dehydrogenase deficiency

ACADS > Short-chain acyl-CoA dehydrogenase (SCAD) deficiency

ACETILCOA > ACADM deficiency

ADA > Adenosine deaminase deficiency

ADAT3 > Mental retardation

AGL > Glycogen storage disease type III

AIMP > Progressive neurodevelopmental disorder

AIMP2 > Epilepsy

APC > Familial adenomatous polyposis (FAP)

AR > Kennedy Syndrome. Balances translocation Chr 2-X / Chr 22-17

ARSB > Mucopolysaccharidosis type VI

ALOX12B > Self-healing collodion baby

ALS2 > Amyotrophic lateral sclerosis

ALPL > Hypophosphatasia

ASL > Argininosuccinic Aciduria

ASPM > Autosomal Recessive Primary Microcephaly

ANTRX2 > Infantile systemic hyalinosis

ANTXR2 > Hereditary systemic hyalinosis

ATL > Spastic Paraplegia AD type 3

ATL1 > Spastic paraplegia type 3A

ATXN1 > Spinocerebellar ataxia type 1

ATXN2 > Spinocerebellar ataxia type 2

BBS4 > Bardet-Biedl syndrome 4

BBS10 > Bardet-Biedl syndrome

BRCA1 > Breast/ovarian cancer

BRCA2 > Breast/ovarian cancer 2

BRIP1 > Fanconi Anemia

BSCL2 > Spastic paraplegia

BTK > X-linked agammaglobulinemia (XLA)

C12ORF57 > Temtamy syndrome

CCM2 > Cerebral cavernous malformations

CENPJ > Microcephaly

CEP290 > Meckel Gruber syndrome

CFTR > Cystic fibrosis

CHM > Choroideremia

CLCN1 > Myotonia congenita (Thomsen’s disease)

CLN3 > CLN3 disease

CSF1R > Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)

COL11A1 > Stickler syndrome, type II

COL1A1 > Osteogenesis imperfecta

COL1A2 > Osteogenesis Imperfecta

COL2A1 > Spondyloepiphyseal dysplasia

COL4A5 > Alport syndrome

COL6A1 > Ullrich myopathy

COL7A1 > Dystrophic epidermolysis bullosa

CPLANE1 (C5ORF42) > Joubert syndrome

CSF1R > Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP )

CYP1B1 > Early-onset glaucoma

CYP21A2 > Congenital adrenal hyperplasia

COQ4 > Primary coenzyme Q10 deficiency

D4Z4 > FSHD

DCAF17 (C2ORF37) > Woodhouse-Sakati syndrome

DELETION 5P > Cri-du-chat syndrome

DELETION 5Q11.2 > Deletion 15q11.2 (PWS/AS region)

DMD > Duchenne muscular dystrophy

DMPK > Steinhert (DM1)

DNAI2 > Ciliary dyskinesia, primary, 9

DNAH5 > Primary ciliary dyskinesia/Heterotaxy

DYNC2H1 > Jeune syndrome

ECHS1 > Mitochondrial syndrome

ECEL1 > Distal arthrogryposis type 5D

ECM1 > Lipoid proteinosis

EDA > Hypohidrotic ectodermal dysplasia

EHS1 > Jeune syndrome

ELAC2 > Hypertrophic cardiomyopathy

ERF > Craniosynostosis

ETFDH > Glutaric acidemia type II

EVC-EVC2 > Cerebral Vascular Disease

EXT1 > Exostoses, type I

EXT2 > Exostoses, type II

F8 > Hemophilia A

FBN1 > Marfan syndrome

FGFR3 > Achondroplasia

FGA > Hereditary renal amyloidosis

FH > Hereditary leiomyomatosis and renal cell cancer (HLRCC)

FKRP > FKRP-related muscular dystrophy

FMR-1 > Fragile X syndrome

FUS > Amyotrophic lateral sclerosis (ALS)

GALC > Krabbe disease

GALT > Galactosemia

GALNS > Mucopolysaccharidosis

GBA > Gaucher disease

GLB1 > GM1 gangliósido

GLDC > Glycine encephalopathy

GRIA3 > Mental retardation

GJA1 > Oculodentodigital dysplasia

GJB2 > Nonsyndromic Hearing Loss, DFNB1/DFNA3

HBA1-HBA2 > Alpha Thalassemia

HBB > Primers – Beta thalassemia

HEXA > Tay-Sachs disease

HLA > Histocompatibility

HMGCL > HMGCL deficiency

HNF1B > Renal cysts and diabetes syndrome

HTT > Huntington disease

IDS > Mucopolisacaridosis tipo II (MPS II; síndrome de Hunter)

IDUA > Mucopolysaccharidosis type I (MPS I)

IL2RG > Combined immunodeficiency, X-linked

ITGA2B > Glanzmann trombastenia

KCNT1 > KCNT1-Related Epilepsy

KCNH2 > Short QT syndrome

KDM6A > Kabuki syndrome

KMT2D > Kabuki syndrome

L1CAM > Hydrocephalus

L1CAM_ABCD1 > Adenoleukodystrophy

LAMA2 > LAMA2-related muscular dystrophy

LAMA3 > Epidermolysis bullosa

LAMB3 > Epidermolysis bullosa

LIPH > Autosomal recessive hypotrichosis

LMNA > Cardiomyopathy dilated

LYNCH > Lynch syndrome

MEN1 > Multiple endocrine neoplasia

MMAB > Methylmalonic Acidemia

MPZ > Charcot-Marie-Tooth TYPE 1B

MSH2 > Lynch syndrome

MKS1 > Meckel Gruber syndrome

MYBPC3 > Hypertrophic cardiomyopathy

MYH7 > Miopathy

NF1 > Neurofibromatosis Type 1

NOTCH3 > CADASIL

NPHS2 > Nephrotic syndrome, type 2

NSD1 > Sotos syndrome

OTC > Ornithine transcarbamylase deficiency

OTOF > Hearing loss

On-demand target gene > Custom Design

OSTM1 > Osteopetrosis, autosomal recessive 5

PAX6 > Peters anomaly

PDE6C > Achromatopsia / Cone-rod dystrophy

PEX16 > Zellweger Syndrome

PHEX > Hypophosphatemic rickets

PHKB > Glycogen storage disease type IX

PLP1 > Pelizaeus-Merzbacher disease

PKD1 > Autosomal dominant Polycystic kidney disease 1

PKD2 > Autosomal dominant Polycystic kidney disease 2

PKHD1 > Autosomal recessive Polycystic kidney and Hepatic disease

PMM2 > Congenital disorder of glycosylation, type la

PMP22 > Charcot-Marie-Tooth disease, type 1A and type 1E

POLG > Alpers-Huttenlocher syndrome

POMK > Muscular dystrophy-dystroglycanopathy

POMGNT2 > Walker-Warburg syndrome

POGNT2 > Walker-Warburg Syndrome

PRPH2 > Stargar’s disease

PTF1A> Pancreatic hypoplasia

RAB3GAP1> RAB18 deficiency

RAG1> Combined immunodeficiency due to RAG1 deficiency

RAG2> Omenn syndrome

RB1> Retinoblastoma

RET > Multiple endocrine neoplasia II

RHO > Retinitis pigmentosa

RPGRIP1 > Leber congenital amaurosis

RYR1 > Central core disease

SCN4A > Paramiotonia (Thomsen disease)

SLC13A5 > Epileptic encephalopathy, early infantile, 25

SLC26A3 > Congenital secretory diarrhea, chloride type

SLC2A2 > Fanconi-Bickel syndrome

SLC45A2 > Oculocutaneous albinism

SLC5A7 > Myasthenic syndrome, congenital, 20, presynaptic

SMN1 3′ + SMN1 5′  > Spinal muscular atrophy

SMPD1 > Niemann-Pick disease

SPAST > Spastic paraplegia type 4

SPG3A > Spastic paraplegia AD type 3

SPMD1 > Niemann-Pick dissease

STXBP2 > Familial hemophagocytic lymphohistiocytosis

TBC1D7 > Macrocephaly/megalencephaly syndrome, autosomal recessive

TBCE > Kenny-Caffey syndrome type 1

TBX5 > Holt-Oram syndrome

TCOF1 > Treacher Collins syndrome 1

TCTN2 > Joubert syndrome

TGFBR1 > Loeys-Dietz syndrome

TGM1 > Ictiosis hereditaria

TNNT2 > Dilated cardiomyopahty

TNXB > Ehlers-Danlos syndrome, classic-like

TP53 > Li-Fraumeni syndrome

TREX1 > Aicardi-Goutières syndrome

TRIP11 > Achondrogenesys type 1A

TSC1 > Tuberous sclerosis-1

TSEN54 > Pontocerebellar Hypoplasia

TUSC3 > Mental retardation, autosomal recessive 7

TWIST1 > Saethre-Chotzen syndrome

UNC13D > Hemophagocytic lymphohistiocytosis, familial, 3

VHL > Von Hippel-Lindau syndrome

VMT1B=MPZ > Charcot-Marie-Tooth disease, type 1B

VPS13B > Cohen syndrome

WAS > Wiskott-Aldrich syndrome

WDR62 > Autosomal recessive primary microcephaly

WWOX > Spinocerebellar ataxia, autosomal recessive 12

MORE INFORMATION

Contact us

Please, don’t hesitate in contacting us if you need any further information

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Contact us

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www.pgd-seq.com
Phone: +34 966 261 268
Info & Support: support@journeygenomics.com
Orders: orders@journeygenomics.com

www.pgd-seq.com
Phone: +34 966 261 268
Info & Support: support@pgd-seq.com
Orders: orders@pgd-seq.com