Conditions for which a PGD protocol is available
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	OMIMdisease	OMIMgene
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.