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
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 test is designed to study monogenic diseases and it is specific to each family
The family clinical report arrives at the laboratory.
When the sample arrives at the laboratory, the first amplification begins. In this step, whole genome is amplified.
The panel is designed specifically for the mutation to study.
A second amplification is performed. This time, just a specific region is amplified.
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.
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.
Then, the embryos are biopsied on day 3 or 5 by an experienced embryologist.
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.
Nowadays there are more than 95 validated panels and we can customize the desired panel for different monogenic diseases
ABCB11 > Choleastasis, progressive familial intrahepatic
ACYL-COA DEHYDROGENASE > ACADM deficiency
ABCD1 > X-linked adrenoleukodystrophy
ACETILCOA > ACADM deficiency
AIMP > Trastorno progresivo del neurodesarrollo
AIMP 2 > Epilepsy
AR > Kennedy Syndrome. Balances translocation Chr 2-X / Chr 22-17
ALS2 > Amyotrophic lateral sclerosis
ANTRX2 > Infantile systemic hyalinosis
ATL > Spastic Paraplegia AD type 3
ATXN1 > Spinocerebellar ataxia type 1
ATXN2 > Spinocerebellar ataxia type 2
BBS4 > Bardet-Biedl syndrome 4
BBS10 > Bardet-Biedl syndrome
BRCA1 > Breast/ovarian cancer
BSCL2 > Spastic paraplegia
CENPJ > Microcephaly
CEP290 > Meckel Gruber syndrome
CFTR > Cystic fibrosis
CHM > Choroideremia
CLCN1 > Myotonia congenita (Thomsen’s disease)
CSF1R > Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
COL11A1 > Stickler syndrome, type II
COL1A1 > Osteogénesis imperfecta
COL2A1 > Spondyloepiphyseal dysplasia
CYP21A2 > Adrenal hyperplasia, congenital
D4Z4 > FSHD
DMD > Duchenne muscular dystrophy
DMPK > Steinhert (DM1)
DYNC2H1 > Jeune syndrome
ECHS1 > Mitochondrial syndrome
EDA > Hypohidrotic ectodermal dysplasia
EHS1 > Jeune syndrome
EVC-EVC2 > Cerebral Vascular Disease
EXT1 > Exostoses, type I
EXT2 > Exostoses, type II
F8 > Hemophilia A
FBN1 > Marfan syndrome
FGFR3 > Achondroplasia
FMR-1 > Fragile X syndrome
FUS > Amyotrophic lateral sclerosis (ALS)
GALC > Krabbe disease
GALNS > Mucopolysaccharidosis
GJA1 > Oculodentodigital dysplasia
HBA1-HBA2 > Alpha Thalassemia
HBB > Thalassemia-beta
HEXA > Tay-Sachs disease
HLA > Histocompatibility
HNF1B > Renal cysts and diabetes syndrome
HTT > Huntington disease
IL2RG > Combined immunodeficiency, X-linked
L1CAM > Hydrocephalus
L1CAM_ABCD1 > */ Adenoleukodystrophy
LAMA3 > Epidermolysis bullosa
LAMB3 > Epidermolysis bullosa
LMNA > Cardiomyopathy dilated
LYNCH > Lynch syndrome
MEN1 > Multiple endocrine neoplasia
MPZ > Charcot-Marie-Tooth TYPE 1B
MSH2 > Lynch syndrome
MKS1 > Meckel Gruber syndrome
MYBPC3 > Hypertrophic cardiomyopathy
MYH7 > Miopathy
NF1 > Neurofibromatosis Type 1
NOTCH3 > CADASIL
OTC > Ornithine transcarbamylase deficiency
PAX6 > Peters anomaly
PLP1 > Pelizaeus-Merzbacher
PKD1 > Autosomal dominant Polycystic kidney disease 1
PKD2 > Autosomal dominant Polycystic kidney disease 2
PKHD1 > Autosomal recessive Polycystic kidney and Hepatic disease
PMM22 > Congenital disorder of glycosylation, type la
PMP22 > Charcot-Marie-Tooth disease, type 1A and type 1E
POMK > Muscular dystrophy-dystroglycanopathy
PRPH2 > Stargar’s disease
RB1> Retinoblastoma
RET > Multiple endocrine neoplasia II
RHO > Retinitis pigmentosa
RYR1 > Central core disease
SCN4A > Paramiotonia (Thomsen disease)
SMN1 3′ > Spinal muscular atrophy
SMN1 5′ > Spinal muscular atrophy
SPAST > Spastic paraplegia type 4
SPG3A > Spastic paraplegia AD type 3
TBX5 > Holt-Oram syndrome
TCOF1 > Treacher Collins syndrome 1
TGFBR1 > Loeys-Dietz syndrome
TNNT2 > Dilated cardiomyopahty
TNXB > Ehlers-Danlos syndrome, classic-like
TP53 > Li-Fraumeni syndrome
TSC1 > Tuberous sclerosis-1
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