Monogenic diseases that can be diagnosed by PGD

Almost all genetically inherited conditions that are diagnosed in the prenatally can also be detected by PGD.

It is possible to perform PGD for any genetic disorders, autosomal dominant, recessive or X-linked, with an identifiable gene.

For pathologies caused by expansions of nucleotide triplets (such as Fragile X, Huntington's disease, Myotonic Dystrophy, etc.) it is possible to obtain information on the absence of triplet expansion.

Whether or not to undergo examination must therefore be evaluated case-by-case. Below is a table listing of the most frequent genetic diseases that can be diagnosed by PGD.

Research and Development Section of “Genoma” Laboratory is able to set-up and perform PGD for any genetic disorders with an identifiable gene.

 

Indication Gene OMIM disease OMIM gene
PGD for monogenic disorders      
Adrenoleukodystrophy (ALD) ABCD1 300100 *300371
Agammaglobulinemia non-Bruton type IGHM #601495 *147020
Alport syndrome COL4A5 #301050 *303630
Amyloid neuropathy – Andrade disease TTR #105210 176300
Angioneurotic oedema C1NH #106100 *606860
Bartter syndrome type 4 BSND #602522 *606412
Blepharophimosis - ptosis - epicanthus inversus syndrome (BEPS) FOXL2 #110100 *605597
Brugada sindrome - Long QT syndrome-3 SCN5A #601144 *600163
Bruton agammaglobulinemia tyrosine kinase BTK +300300 +300300
Ceroid lipofuscinosis neuronal type 2 CLN2 #204500 *607998
Charcot Marie Tooth type 1A (CMT1A) PMP22 #118220 *601097
Charcot Marie Tooth type X (CMTX) CMTX #302800 *304040
Chronic granulomatous disease (CGD) CYBB #306400 *300481
Cystic Fibrosis  (CF) CFTR #219700 *602421
Congenital adrenal hyperplasia (CAH) CYP21A2 201910 201910
Congenital disorder of glycosylation type Ia (CDG Ia) PMM2 #212065 *601785
Congenital fibrosis of extraocular muscles 1 (CFEOM1) KIF21A #135700 *608283
Crigler-Najjar syndrome UGT1A1 #218800 *191740
Deafness, autosomal recessive CX26 *121011 *121011
Diamond-Blackfan anemia (DBA) RPS19 #105650 *603474
Duchenne-Becker muscular dystrophy (DMD/DMB) DMD #310200 *300377
Duncan disease - X-linked lymphoproliferative syndrome (XLPD) SH2D1A #308240 *300490
Ectrodactyly ectodermal dysplasia and cleft lip/palate syndrome (EEC) p63 129900% *603273
Epidermolysis bullosa dystrophica/pruriginosa COL7A1 #131750 *120120
Exostoses multiple type I (EXT1) EXT1 #133700 *608177
Exostoses multiple type II (EXT2) EXT2 #133701 *608210
Facioscapulohumeral muscular dystrophy FRG1 %158900 *601278
Factor VII deficiency F7 227500 227500
Familial Mediterranean Fever (FMF) MEFV #249100 *608107
Fanconi anemia A FANCA #227650 *607139
Fanconi anemia G FANCG #227650 +602956
Fragile-X FRAXA 309550 309550
Gangliosidosis (GM1) GLB1 230500 230500
Gaucher disease (GD) GBA #230800 *606463
Glanzmann thrombasthenia ITGA2B #273800 *607759
Glucose-6-phosphate dehydrogenase deficiency G6PD 305900 305900
Glutaric acidemia I GCDH #231670 *608801
Haemophilia A F8 306700 306700
Haemophilia B F9 306900 306900
Hand-foot-uterus syndrome HOXD13 #140000 *142959
Hemophagocytic lymphohistiocytosis familial, type 2 (FHL2) PRF1 #603553 *170280
Hypomagnesaemia primary CLDN16 #248250 *603960
HYPOPHOSPHATASIA ALPL #241500 *171760
Holt-Oram Sindrome (HOS) TBX5 #142900 *601620
Homocystinuria MTHFR #236250 *607093
Incontinentia pigmenti NEMO #308300 *300248
Lesch-Nyhan syndrome HPRT #300322 *308000
Limb-girdle muscular dystrophy type 2C (LGMD2C) SGCG #253700 *608896
Long QT syndrome-1 KCNQ1 #192500 *607542
Mannosidosis Alpha MAN2B1 #248500 *609458
Marfan syndrome FBN1 #154700 *134797
Methacrylic Aciduria, deficiency of beta-hydroxyisobutyryl-CoA deacylase HIBCH %250620 %250620
Mevalonic aciduria MVK 251170 251170
Myotonic dystrophy (DM) DMPK #160900 605377
Myotonic dystrophy type 2 (DM2) ZNF9 #602668 *116955
Mucopolysaccharidosis Type I - Hurler syndrome IDUA #607014 *252800
Mucopolysaccharidosis Type IIIA - Sanfilippo sindrome A (MPS3A) SGSH #252900 *605270
Mucopolysaccharidosis Type IIIB - Sanfilippo sindrome B (MPS3B) NAGLU #252920 609701
Mucopolysaccharidosis Type VI (MPS VI) - Maroteaux-Lamy Syndrome ARSB 253200 253200
Neuronal ceroid lipofuscinosis 1 - Batten's disease (CLN1) PPT1 #256730 *600722
Niemann-Pick disease SMPD1 #257200 607608
Noonan sindrome PTPN11 #163950 *176876
Pancreatitis, hereditary (PCTT) PRSS1 #167800 +276000
Paramyotonia congenita (PMC) SCN4A #168300 +603967
Phenylketonuria PAH +261600 +261600
Polycystic kidney disease type 1 (PKD1) PKD1 601313 601313
Polycystic kidney disease type 2 (PKD2) PKD2 +173910 +173910
Polycystic kidney and hepatic disease-1 (ARPKD) PKHD1 #263200 *606702
Schwartz-Jampel/Stuve-Wiedemann syndrome LIFR #601559 *151443
Sickle cell anemia HBB #603903 141900
Synpolydactyly (SPD1) HOXA13 #186000 *142989
Smith-Lemli-Opitz syndrome DHCR7 #270400 *602858
Spastic paraplegia type 3 SPG3A #182600 *606439
Spinal Muscular Atrophy (SMA) SMN #253300 *600354
Spinocerebellar ataxia 3 (SCA3) ATXN3 #109150 *607047
Spinocerebellar ataxia 7 (SCA7) ATXN7 #164500 *607640
Stargardt disease ABCA4 #248200 *601691
Tay Sachs (TSD) HEXA #272800 *606869
Thalassemia-α mental retardation syndrome ATRX #301040 *300032
Thalassemia-β HBB 141900 141900
Torsion dystonia, early onset (EOTD) DYT1 #128100 *605204
Tyrosinaemia type 1 FAH +276700 +276700
Tuberosclerosis 1 TSC1 #191100 *605284
Tuberosclerosis 2 TSC2 #191100 *191092
Wiskott-Aldrich Sindrome (WAS) WAS #301000 *300392
       
PGD for inherited predisposition to cancer      
Familial adenomatous polyposis APC +175100 +175100
Li-Fraumeni syndrome p53 #151623 191170
Multiple endocrine neoplasia type I MEN1 131100 131100
Neurofibromatosis type 1 NF1 162200 162200
Retinoblastoma RB1 180200 180200
von Hippel-Lindau sindrome VHL #193300 *608537
       
PGD for late on-set disorders      
Alzheimer disease type 1 APP #104300 *104760
Huntington (HD) HD 143100 143100
       
Specific traits      
Preimplantation HLA Matching HLA    
SGD + Preimplantation HLA Matching Gene+HLA    
       
Chromosomal Microdeletions testing by PCR      
All Chromosomes      

Optimisation of PGD protocols for all diseases and mutations on request
Monogenic disease are always tested in combination with linked STR markers. Mutation analysis is performed by using minisequencing technique (if the mutations are known), linkage analysis (unknown mutations) or fluorescent PCR.

Aneuploidy screening is also offered in combination with mutation analysis for the following indication:
- recurrent miscarriages (RM): Chr 13, 14, 15, 16, 17, 21, 22, X
- repeated implantation failure (RIF): Chr 14, 16, 17, 21, 22, X
- advanced maternal age (AMA): Chr 13, 18, 21, X, Y

In PGD cases where the mutation is unknown (only clinical diagnosis) mutation screening by sequencing of the disease causing gene is also offered.