Product Name

Application

Region

ME028-PWS/AS

Prader Willi syndrome (PWS), Angelman syndrome (AS)

PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2

ME030-BWS/RSS

Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS)

11p15 region, H19, IGF2, CDKN1C, KCNQ1

ME032-UPD7-UPD14

Uniparental disomy

6q24, 7p12, 7q32 and 14q32

P013-ATRX

Alpha-Thalassemia/Mental Retardation

ATRX ; Xq13

P026-Sotos

Sotos syndrome

NSD1, 5q35

P029-WBS

Williams-Beuren syndrome

WBS criticial region 7q11.23

P031-FANCA mix 1

Fanconi Anemia (FA)

FANCA 16q24.3

P032-FANCA mix 2

Fanconi Anemia (FA)

FANCA 16q24.3

P036-Subtelomeres Mix 1 CE

Subtelomeric testing

All subtelomeres

P046-TSC2

Tuberous Sclerosis

TSC2 16p13.3

P057-FANCD2-PALB2

Fanconi anemia (FA)

FANCD2. 3p25.3, PALB2 16p12

P061-Lissencephaly

Lissencephaly

LIS1, DCX, POMT1, POMGnT1, FLNA

P064-MR-1

Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos

Various

P067-PTCH1

Gorlin syndrome

PTCH1 9q22.3

P070-Subtelomeres Mix 2B CE

Subtelomeric testing

All subtelomeres

P073-IKBKG

Incontinentia Pigmenti

Xq28; IKBKG, NEMO, IKBKGP

P075-TCF4-FOXG1

Pitt-Hopkins syndrome, Congential variant of Rett syndrome

TCF4, FOXG1

P080-Craniofacial

Craniofacial disorders

FGFRs, TWIST, MSX2, ALX4, RUNX2

P091-CFTR CE

Cystic Fibrosis

CFTR 7q31.2

P095-Aneuploidy CE

Down syndrome, Edwards syndrome, Patau syndrome

Chr. 13, 18, 21, X, Y

P096-MR-2

Mental retardation, Wolf-Hirschhorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki

Various

P122-NF1-area

Neurofibromatosis

NF1 17q11.2

P124-TSC1

Tuberous Sclerosis

TSC1 9q34

P141-NIPBL-1

Cornelia de Lange syndrome (CDLS)

NIPBL 5p13.2

P142-NIPBL-2

Cornelia de Lange syndrome (CDLS)

NIPBL 5q13.1

P147-1p36

1p36 deletion syndrome

1p36

P153-EYA1

Branchio-oto-renal dysplasia syndrome (BOR)

EYA1 8q13.3.

P154-GPC3-GPC4

Simpson-Golabi-Behmel syndrome (SGBS)

GPC3, GPC4, Xq26

P179-Limb-1

Limb malformations

GLI3 7p14.1, HOXD13 2q31.1, ROR2 9q22.31

P180-Limb-2

Limb malformations, heart

SALL1 16q12, SALL4 20q13, TBX5 12q24

P183-EDA

Ectodermal dysplasia, x-linked (XLHED)

EDA Xq12-q13.1

P187-HPE

Holoprosencephaly (HPE)

PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11

P188-22q13

Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3

22q13.3, SHANK3, ACR, RABL2B

P201-CHARGE

CHARGE syndrome

CHD7 8q12.2

P208-Human Telomere-6

Subtelomeric testing

2p, 3p, 6p, 8p

P212-DBA

Diamond-Blackfan anemia (DBA)

RPL11, RPL5, RPL35A, RPS26, RPS17 and RPS19

P228-TRPS1-EXT1

Trichorhinophalangeal syndrome type I (TRPS1), Langer-Giedion syndrome (LGS)

TRPS1, EXT1, 8q24

P230-Human Telomere-7

Subtelomeric testing

9p, 10p, 11p, 12p

P231-FGF10-FGFR2

Autosomal dominant lacrimoauriculodentodigital (LADD)

FGF10 5p13, FGFR2 10q26

P232-FGD1

Faciogenital dysplasia (FGDY), Aarskog-Scott syndrome

FGD1 Xp11.21

P233-MID1

OPITZ syndrome

MID1 Xp22

P237-DNAI1

Primary ciliary dyskinesia (PCD)

DNAI1 9p21

P238-DNAH5

Primary ciliary dyskinesia (PCD)

DNAH5 5p15

P245-Microdeletion Syndromes1A CE

Microdeletion syndromes

Various

P249-Human Telomere-8

Subtelomeric testing

17p, 18p, 19p, 20p

P250-DiGeorge CE

DiGeorge syndrome

22q11

P257-TERT-DKC1

Dyskeratosis congenita (DC)

DKC1 Xq28

P259-RPS6KA3

Coffin-Lowry Syndrome (CLS)

RPS6KA3, PQBP1.

P260-PALB2-RAD50-RAD51C-RAD51D

Fanconi Anemia

5q31, 16p12, 17q12, 17q22