Preimplantation Genetic Diagnosis (PGD) by PGD-SEQ

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.	First Amplification When the sample arrives at the laboratory, the first amplification begins. In this step, whole genome is amplified.
Panel Design The panel is designed specifically for the mutation to study.	Second Amplification A second amplification is performed. This time, just a specific region is amplified.
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.	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.
Embryo Biopsy Then, the embryos are biopsied on day 3 or 5 by an experienced embryologist.

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.

PGD+PGS analysis can be carried out in 24 hours.

Panels Available & Customisation

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

ABCB11 > Choleastasis, progressive familial intrahepatic	COL2A1 > Spondyloepiphyseal dysplasia
ACYL-COA DEHYDROGENASE > ACADM deficiency	CYP21A2 > Adrenal hyperplasia, congenital
ABCD1 > X-linked adrenoleukodystrophy	D4Z4 > FSHD
ACETILCOA > ACADM deficiency	DMD > Duchenne muscular dystrophy
AIMP > Trastorno progresivo del neurodesarrollo	DMPK > Steinhert (DM1)
AIMP 2 > Epilepsy	DYNC2H1 > Jeune syndrome
AR > Kennedy Syndrome. Balances translocation Chr 2-X / Chr 22-17	ECHS1 > Mitochondrial syndrome
ALS2 > Amyotrophic lateral sclerosis	EDA > Hypohidrotic ectodermal dysplasia
ANTRX2 > Infantile systemic hyalinosis	EHS1 > Jeune syndrome
ATL > Spastic Paraplegia AD type 3	EVC-EVC2 > Cerebral Vascular Disease
ATXN1 > Spinocerebellar ataxia type 1	EXT1 > Exostoses, type I
ATXN2 > Spinocerebellar ataxia type 2	EXT2 > Exostoses, type II
BBS4 > Bardet-Biedl syndrome 4	F8 > Hemophilia A
BBS10 > Bardet-Biedl syndrome	FBN1 > Marfan syndrome
BRCA1 > Breast/ovarian cancer	FGFR3 > Achondroplasia
BSCL2 > Spastic paraplegia	FMR-1 > Fragile X syndrome
CENPJ > Microcephaly	FUS > Amyotrophic lateral sclerosis (ALS)
CEP290 > Meckel Gruber syndrome	GALC > Krabbe disease
CFTR > Cystic fibrosis	GALNS > Mucopolysaccharidosis
CHM > Choroideremia	GJA1 > Oculodentodigital dysplasia
CLCN1 > Myotonia congenita (Thomsen’s disease)	HBA1-HBA2 > Alpha Thalassemia
CSF1R > Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)	HBB > Thalassemia-beta
COL11A1 > Stickler syndrome, type II	HEXA > Tay-Sachs disease
COL1A1 > Osteogénesis imperfecta	HLA > Histocompatibility
HNF1B > Renal cysts and diabetes syndrome	HTT > Huntington disease

IL2RG > Combined immunodeficiency, X-linked	POMK > Muscular dystrophy-dystroglycanopathy
L1CAM > Hydrocephalus	PRPH2 > Stargar’s disease
L1CAM_ABCD1 > */ Adenoleukodystrophy	RB1> Retinoblastoma
LAMA3 > Epidermolysis bullosa	RET > Multiple endocrine neoplasia II
LAMB3 > Epidermolysis bullosa	RHO > Retinitis pigmentosa
LMNA > Cardiomyopathy dilated	RYR1 > Central core disease
LYNCH > Lynch syndrome	SCN4A > Paramiotonia (Thomsen disease)
MEN1 > Multiple endocrine neoplasia	SMN1 3′ > Spinal muscular atrophy
MPZ > Charcot-Marie-Tooth TYPE 1B	SMN1 5′ > Spinal muscular atrophy
MKS1 > Meckel Gruber syndrome	SPAST > Spastic paraplegia type 4
MSH2 > Lynch syndrome	SPG3A > Spastic paraplegia AD type 3
MYBPC3 > Hypertrophic cardiomyopathy	TBX5 > Holt-Oram syndrome
MYH7 > Miopathy	TCOF1 > Treacher Collins syndrome 1
NF1 > Neurofibromatosis Type 1	TGFBR1 > Loeys-Dietz syndrome
NOTCH3 > CADASIL	TNNT2 > Dilated cardiomyopahty
OTC > Ornithine transcarbamylase deficiency	TNXB > Ehlers-Danlos syndrome, classic-like
PAX6 > Peters anomaly	TP53 > Li-Fraumeni syndrome
PLP1 > Pelizaeus-Merzbacher	TSC1 > Tuberous sclerosis-1
PKD1 > Autosomal dominant Polycystic kidney disease 1	TWIST1 > Saethre-Chotzen syndrome
PKD2 > Autosomal dominant Polycystic kidney disease 2	UNC13D > Hemophagocytic lymphohistiocytosis, familial, 3
PKHD1 > Autosomal recessive Polycystic kidney and Hepatic disease	VHL > Von Hippel-Lindau syndrome
PMM22 > Congenital disorder of glycosylation, type la	VMT1B=MPZ > Charcot-Marie-Tooth disease, type 1B
PMP22 > Charcot-Marie-Tooth disease, type 1A and type 1E	VPS13B > Cohen syndrome