DNA labs India - List of all Malformation and Retardation Syndromes Tests Cost

Genetic DNA test List of all Malformation and Retardation Syndromes Tests sample collection and testing

DNA labs India is Ranked as India’s No1 Genetic DNA Testing Laboratory. With 3000 sample collection centers, 7 Regional Offices in Delhi Mumbai Kolkata chennai bangalore Hyderabad Ahmedabad and pune & tie-up with 500 hospitals across India. We perform more than 5000 tests a day.India’s most trusted genetic lab by doctors. Below are List of all Malformation and Retardation Syndromes Tests. Feel Free to contact us if you facing hard time in identifing the test that best fits your need. Our team of experts will help you

Test Name

Test Cost

Test Details

Achondrogenesis type 2 (COL2A1)

Cost: 45000.00  Test Offer

Acrodysostosis type 1 with or without hormone resistance (PRKAR1A)

Cost: 45000.00  Test Offer

Acromelic frontonasal dysostosis (ZSWIM6)

Cost: 45000.00  Test Offer

Acromesomelic dysplasia Maroteaux type (NPR2)

Cost: 45000.00  Test Offer

ADULT syndrome split hand-foot malformation (TP63)

Cost: 45000.00  Test Offer

Alacrima achalasia and mental retardation syndrome (GMPPA)

Cost: 45000.00  Test Offer

Alagille syndrome type 1 (JAG1)

Cost: 45000.00  Test Offer

Alagille syndrome type 2 (NOTCH2)

Cost: 45000.00  Test Offer

Alazami syndrome (LARP7)

Cost: 45000.00  Test Offer

Ankyloblepharon-ectodermal defects-cleft lip/palate (TP63)

Cost: 45000.00  Test Offer

Anterior segment mesenchymal dysgenesis (PITX3)

Cost: 45000.00  Test Offer

Antley-Bixler syndrome (FGFR2)

Cost: 45000.00  Test Offer

Apert syndrome (FGFR2)

Cost: 45000.00  Test Offer

Athabaskan brainstem dysgenesis syndrome (HOXA1)

Cost: 45000.00  Test Offer

Atrial septal defect type 2 (GATA4)

Cost: 45000.00  Test Offer

Atrial septal defect with atrioventricular conduction defects (NKX2-5)

Cost: 45000.00  Test Offer

Atrioventricular septal defect partial with heterotaxy syndrome (CRELD1)

Cost: 45000.00  Test Offer

Auriculocondylar syndrome type 2 (PLCB4)

Cost: 45000.00  Test Offer

Axenfeld-Rieger syndrome type 1 (PITX2)

Cost: 45000.00  Test Offer

Axenfeld-Rieger syndrome type 3 (FOXC1)

Cost: 45000.00  Test Offer

Bainbridge-Ropers syndrome (ASXL3)

Cost: 45000.00  Test Offer

Baller-Gerold syndrome (RECQL4)

Cost: 45000.00  Test Offer

Band-like calcification with simplified gyration and polymicrogyria (OCLN)

Cost: 45000.00  Test Offer

Baraitser-Winter syndrome 1 (ACTB)

Cost: 45000.00  Test Offer

Baraitser-Winter syndrome 2 (ACTG1)

Cost: 45000.00  Test Offer

Basal cell nevus syndrome (PTCH1)

Cost: 45000.00  Test Offer

Basal cell nevus syndrome (SUFU)

Cost: 45000.00  Test Offer

Basal ganglia calcification type 3 (SLC20A2)

Cost: 45000.00  Test Offer

Basal ganglia calcification type 4 (PDGFRB)

Cost: 45000.00  Test Offer

Basal ganglia calcification type 5 idiopathic (PDGFB)

Cost: 45000.00  Test Offer

Basal ganglia calcification type 6 idiopathic (XPR1)

Cost: 45000.00  Test Offer

Beta-ureidopropionase deficiency (UPB1)

Cost: 45000.00  Test Offer

Bifid nose (FREM1)

Cost: 45000.00  Test Offer

Birt-Hogg-Dube syndrome (FLCN)

Cost: 45000.00  Test Offer

Bjornstad syndrome (BCS1L)

Cost: 45000.00  Test Offer

Blau syndrome (NOD2)

Cost: 45000.00  Test Offer

Bohring-Opitz syndrome (ASXL1)

Cost: 45000.00  Test Offer

Bone marrow failure syndrome type 2 (ERCC6L2)

Cost: 45000.00  Test Offer

Brachydactyly type A1 (GDF5)

Cost: 45000.00  Test Offer

Brachydactyly type A2 (BMP2)

Cost: 45000.00  Test Offer

Brachydactyly type A2 (BMPR1B)

Cost: 45000.00  Test Offer

Brachydactyly type B1 (ROR2)

Cost: 45000.00  Test Offer

Brachydactyly type E1 (HOXD13)

Cost: 45000.00  Test Offer

Brachydactyly-mental retardation syndrome (HDAC4)

Cost: 45000.00  Test Offer

Brachydactyly-syndactyly syndrome (HOXD13)

Cost: 45000.00  Test Offer

Branchiooculofacial syndrome (TFAP2A)

Cost: 45000.00  Test Offer

C syndrome (CD96)

Cost: 45000.00  Test Offer

Campomelic dysplasia (SOX9)

Cost: 45000.00  Test Offer

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (PRG4)

Cost: 45000.00  Test Offer

Camurati-Engelmann disease (TGFB1)

Cost: 45000.00  Test Offer

Cantu syndrome (ABCC9)

Cost: 45000.00  Test Offer

Carpenter syndrome (RAB23)

Cost: 45000.00  Test Offer

Carpenter syndrome type 2 (MEGF8)

Cost: 45000.00  Test Offer

Central hypoventilation syndrome with or without Hirschsprung disease (PHOX2B)

Cost: 45000.00  Test Offer

Central hypoventilation syndrome congenital (ASCL1)

Cost: 45000.00  Test Offer

Central hypoventilation syndrome congenital (BDNF)

Cost: 45000.00  Test Offer

Central hypoventilation syndrome congenital (ECE1)

Cost: 45000.00  Test Offer

Central hypoventilation syndrome congenital (EDN3)

Cost: 45000.00  Test Offer

Central hypoventilation syndrome congenital (GDNF)

Cost: 45000.00  Test Offer

Central hypoventilation syndrome congenital (GFRA1)

Cost: 45000.00  Test Offer

Central hypoventilation syndrome congenital (MECP2)

Cost: 45000.00  Test Offer

Central hypoventilation syndrome congenital (PHOX2A)

Cost: 45000.00  Test Offer

Central hypoventilation syndrome congenital (RET)

Cost: 45000.00  Test Offer

Central hypoventilation syndrome congenital (ZEB2)

Cost: 45000.00  Test Offer

Cerebral dysgenesis neuropathy ichthyosis palmoplantar keratoderma syndrome (SNAP29)

Cost: 45000.00  Test Offer

Cerebrooculofacioskeletal syndrome type 1 (ERCC6)

Cost: 45000.00  Test Offer

Cerebrooculofacioskeletal syndrome type 4 (ERCC1)

Cost: 45000.00  Test Offer

CHARGE syndrome (CHD7)

Cost: 45000.00  Test Offer

CHIME syndrome (PIGL)

Cost: 45000.00  Test Offer

Chondrodysplasia Blomstrand type (PTH1R)

Cost: 45000.00  Test Offer

Choroideremia (CHM)

Cost: 45000.00  Test Offer

Chrondrodysplasia acromesomelic with genital anomalies (BMPR1B)

Cost: 45000.00  Test Offer

Chudley-McCullough syndrome (GPSM2)

Cost: 45000.00  Test Offer

Club foot (PITX1)

Cost: 45000.00  Test Offer

Cockayne syndrome type A (ERCC8)

Cost: 45000.00  Test Offer

CODAS syndrome (LONP1)

Cost: 45000.00  Test Offer

Coffin-Siris syndrome SMARCE1 related (SMARCE1)

Cost: 45000.00  Test Offer

Cold-induced sweating syndrome (CRLF1)

Cost: 45000.00  Test Offer

Cold-induced sweating syndrome type 2 (CLCF1)

Cost: 45000.00  Test Offer

Congenital heart disease and transposition of the great arteries (FOXH1)

Cost: 45000.00  Test Offer

Congenital short-bowel syndrome (CLMP)

Cost: 45000.00  Test Offer

Corpus callosum agenesis of with abnormal genitalia (ARX)

Cost: 45000.00  Test Offer

Cortical malformations occipital (LAMC3)

Cost: 45000.00  Test Offer

Costello syndrome (HRAS)

Cost: 45000.00  Test Offer

Cousin syndrome (TBX15)

Cost: 45000.00  Test Offer

Craniodiaphyseal dysplasia autosomal dominant (SOST)

Cost: 45000.00  Test Offer

Cranioectodermal dysplasia type 1 (IFT122)

Cost: 45000.00  Test Offer

Cranioectodermal dysplasia type 2 (WDR35)

Cost: 45000.00  Test Offer

Cranioectodermal dysplasia type 3 (IFT43)

Cost: 45000.00  Test Offer

Cranioectodermal dysplasia type 4 (WDR19)

Cost: 45000.00  Test Offer

Craniofacial and neuro-developmental abnormalities (DISP1)

Cost: 45000.00  Test Offer

Craniofacial and neuro-developmental abnormalities JAG2 related (JAG2)

Cost: 45000.00  Test Offer

Craniofacial anomalies and anterior segment dysgenesis syndrome (VSX1)

Cost: 45000.00  Test Offer

Craniofrontonasal syndrome (EFNB1)

Cost: 45000.00  Test Offer

Craniometaphyseal dysplasia (ANKH)

Cost: 45000.00  Test Offer

Craniosynostosis and dental anomalies (IL11RA)

Cost: 45000.00  Test Offer

Craniosynostosis type 1 (TWIST1)

Cost: 45000.00  Test Offer

Craniosynostosis type 2 (MSX2)

Cost: 45000.00  Test Offer

Craniosynostosis type 3 (TCF12)

Cost: 45000.00  Test Offer

Craniosynostosis type 4 (ERF)

Cost: 45000.00  Test Offer

Craniosynostosis FGFR1 related (FGFR1)

Cost: 45000.00  Test Offer

Craniosynostosis nonspecific (FGFR2)

Cost: 45000.00  Test Offer

Crouzon syndrome (FGFR2)

Cost: 45000.00  Test Offer

Currarino syndrome (MNX1)

Cost: 45000.00  Test Offer

Czech dysplasia (COL2A1)

Cost: 45000.00  Test Offer

Dandy-Walker malformation and occipital cephaloceles LAMC1 related (LAMC1)

Cost: 45000.00  Test Offer

Desbuquois dysplasia (CANT1)

Cost: 45000.00  Test Offer

Desbuquois dysplasia type 2 (XYLT1)

Cost: 45000.00  Test Offer

Desmosterolosis (DHCR24)

Cost: 45000.00  Test Offer

Diamond Blackfan anemia type 15 with mandibulofacial dysostosis (RPS28)

Cost: 45000.00  Test Offer

Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis (TSR2)

Cost: 45000.00  Test Offer

DiGeorge syndrome (TBX1)

Cost: 45000.00  Test Offer

Donnai-Barrow syndrome (LRP2)

Cost: 45000.00  Test Offer

DOOR syndrome (TBC1D24)

Cost: 45000.00  Test Offer

Duane Retraction syndrome (SALL4)

Cost: 45000.00  Test Offer

Dysmorphism HMG20B related (HMG20B)

Cost: 45000.00  Test Offer

Ectodactyly ectodermal dysplasia and cleft lip/palate syndrome type 3 (TP63)

Cost: 45000.00  Test Offer

Ellis-van Creveld syndrome (EVC)

Cost: 45000.00  Test Offer

Ellis-van Creveld syndrome (EVC2)

Cost: 45000.00  Test Offer

Epiphyseal dysplasia multiple with myopia and deafness (COL2A1)

Cost: 45000.00  Test Offer

Faciogenital dysplasia (FGD1)

Cost: 45000.00  Test Offer

Fanconi anemia complementation group Q (ERCC4)

Cost: 45000.00  Test Offer

Feingold syndrome (MYCN)

Cost: 45000.00  Test Offer

Fetal akinesia deformation sequence (DOK7)

Cost: 45000.00  Test Offer

Fetal akinesia deformation sequence (RAPSN)

Cost: 45000.00  Test Offer

Fibular aplasia or hypoplasia femoral bowing and poly- syn- and oligodactyly (WNT7A)

Cost: 45000.00  Test Offer

FILS syndrome (POLE)

Cost: 45000.00  Test Offer

Fraser syndrome (FRAS1)

Cost: 45000.00  Test Offer

Fraser syndrome (FREM2)

Cost: 45000.00  Test Offer

Fraser syndrome (GRIP1)

Cost: 45000.00  Test Offer

Frontonasal dysplasia type 1 (ALX3)

Cost: 45000.00  Test Offer

Fumarase deficiency (FH)

Cost: 45000.00  Test Offer

Galloway-Mowat syndrome (WDR73)

Cost: 45000.00  Test Offer

Genitopatellar syndrome (KAT6B)

Cost: 45000.00  Test Offer

Glass syndrome (SATB2)

Cost: 45000.00  Test Offer

Goldberg-Shprintzen megacolon syndrome (KIAA1279)

Cost: 45000.00  Test Offer

GRACILE syndrome (BCS1L)

Cost: 45000.00  Test Offer

Greenberg skeletal dysplasia (LBR)

Cost: 45000.00  Test Offer

Greig cephalopolysyndactyly syndrome (GLI3)

Cost: 45000.00  Test Offer

Growth retardation with deafness and mental retardation due to IGF1 deficiency (IGF1)

Cost: 45000.00  Test Offer

Guttmacher syndrome (HOXA13)

Cost: 45000.00  Test Offer

Hamamy syndrome (IRX5)

Cost: 45000.00  Test Offer

Hand-foot-uterus syndrome (HOXA13)

Cost: 45000.00  Test Offer

Hartsfield syndrome (FGFR1)

Cost: 45000.00  Test Offer

Heart-hand syndrome Slovenian type (LMNA)

Cost: 45000.00  Test Offer

Helsmoortel-van der Aa syndrome (ADNP)

Cost: 45000.00  Test Offer

Hemimegalencephaly (AKT3)

Cost: 45000.00  Test Offer

Hennekam lymphangiectasia-lymphedema syndrome type 2 (FAT4)

Cost: 45000.00  Test Offer

Heterotaxy visceral type 1 (ZIC3)

Cost: 45000.00  Test Offer

Heterotaxy visceral type 2 (CFC1)

Cost: 45000.00  Test Offer

Heterotaxy visceral type 4 (ACVR2B)

Cost: 45000.00  Test Offer

Heterotaxy visceral type 5 (NODAL)

Cost: 45000.00  Test Offer

Heterotaxy visceral type 6 (CFAP53)

Cost: 45000.00  Test Offer

Heterotaxy visceral type 7 (MMP21)

Cost: 45000.00  Test Offer

Heterotaxy visceral BCL9L related (BCL9L)

Cost: 45000.00  Test Offer

Hirschsprung disease (ECE1)

Cost: 45000.00  Test Offer

Hirschsprung disease (EDN3)

Cost: 45000.00  Test Offer

Hirschsprung disease (EDNRB)

Cost: 45000.00  Test Offer

Hirschsprung disease (GDNF)

Cost: 45000.00  Test Offer

Hirschsprung disease (KIAA1279)

Cost: 45000.00  Test Offer

Hirschsprung disease (NRG1)

Cost: 45000.00  Test Offer

Hirschsprung disease (NRTN)

Cost: 45000.00  Test Offer

Hirschsprung disease (RET)

Cost: 45000.00  Test Offer

Hirschsprung disease (ZEB2)

Cost: 45000.00  Test Offer

Holoprosencephaly type 11 (CDON)

Cost: 45000.00  Test Offer

Holoprosencephaly type 2 (SIX3)

Cost: 45000.00  Test Offer

Holoprosencephaly type 3 (SHH)

Cost: 45000.00  Test Offer

Holoprosencephaly type 4 (TGIF1)

Cost: 45000.00  Test Offer

Holoprosencephaly type 5 (ZIC2)

Cost: 45000.00  Test Offer

Holoprosencephaly-type 9 (GLI2)

Cost: 45000.00  Test Offer

Holt-Oram syndrome (TBX5)

Cost: 45000.00  Test Offer

Hutchinson-Gilford progeria (LMNA)

Cost: 45000.00  Test Offer

Hydranencephaly Fowler type (FLVCR2)

Cost: 45000.00  Test Offer

Hydrolethalus syndrome (HYLS1)

Cost: 45000.00  Test Offer

Hypermethioninemia due to adenosine kinase deficiency (ADK)

Cost: 45000.00  Test Offer

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (AHCY)

Cost: 45000.00  Test Offer

Hyperphosphatasia with mental retardation syndrome type 1 (PIGV)

Cost: 45000.00  Test Offer

Hyperphosphatasia with mental retardation syndrome type 2 (PIGO)

Cost: 45000.00  Test Offer

Hyperphosphatasia with mental retardation syndrome type 3 (PGAP2)

Cost: 45000.00  Test Offer

Hyperphosphatasia with mental retardation syndrome type 4 (PGAP3)

Cost: 45000.00  Test Offer

Hyperphosphatasia with mental retardation syndrome type 5 (PIGW)

Cost: 45000.00  Test Offer

Hypogonadism alopecia Diabetes mellitus mental retardation and extrapyramidal syndrome (DCAF17)

Cost: 45000.00  Test Offer

Hypogonadotropic hypogonadism type 6 with or without anosmia (FGF8)

Cost: 45000.00  Test Offer

Hypospadias type 1 X-linked (AR)

Cost: 45000.00  Test Offer

Hypospadias type 2 X-linked (MAMLD1)

Cost: 45000.00  Test Offer

IMAGE syndrome (CDKN1C)

Cost: 45000.00  Test Offer

Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 (ZBTB24)

Cost: 45000.00  Test Offer

Intestinal atresia multiple (TTC7A)

Cost: 45000.00  Test Offer

IVIC syndrome (SALL4)

Cost: 45000.00  Test Offer

Jackson-Weiss syndrome (FGFR1)

Cost: 45000.00  Test Offer

Jackson-Weiss syndrome (FGFR2)

Cost: 45000.00  Test Offer

Jawad syndrome (RBBP8)

Cost: 45000.00  Test Offer

Kabuki syndrome type 1 (KMT2D)

Cost: 45000.00  Test Offer

Kabuki syndrome type 2 (KDM6A)

Cost: 45000.00  Test Offer

Kallmann syndrome (CHD7)

Cost: 45000.00  Test Offer

Kallmann syndrome (FGFR1)

Cost: 45000.00  Test Offer

Kallmann syndrome (KAL1)

Cost: 45000.00  Test Offer

Kallmann syndrome type 2 (PROK2)

Cost: 45000.00  Test Offer

KBG syndrome (ANKRD11)

Cost: 45000.00  Test Offer

Keutel syndrome (MGP)

Cost: 45000.00  Test Offer

Kleefstra syndrome (EHMT1)

Cost: 45000.00  Test Offer

Klippel-Feil syndrome type 1 autosomal dominant (GDF6)

Cost: 45000.00  Test Offer

Klippel-Feil syndrome type 2 autosomal dominant (MEOX1)

Cost: 45000.00  Test Offer

Klippel-Feil syndrome type 3 autosomal dominant (GDF3)

Cost: 45000.00  Test Offer

Klippel-Feil syndrome type 4 autosomal dominant with myopathy and facial dysmorphism (MYO18B)

Cost: 45000.00  Test Offer

Kniest dysplasia (COL2A1)

Cost: 45000.00  Test Offer

Koolen syndrome (KANSL1)

Cost: 45000.00  Test Offer

LADD syndrome (FGF10)

Cost: 45000.00  Test Offer

LADD syndrome (FGFR2)

Cost: 45000.00  Test Offer

Langer-Giedion syndrome (EXT1)

Cost: 45000.00  Test Offer

Langer-Giedion syndrome (TRPS1)

Cost: 45000.00  Test Offer

Larsen syndrome (FLNB)

Cost: 45000.00  Test Offer

Left-right axis malformations (LEFTY2)

Cost: 45000.00  Test Offer

Lenz-Majewski hyperostotic dwarfism (PTDSS1)

Cost: 45000.00  Test Offer

LEOPARD syndrome type 3 (BRAF)

Cost: 45000.00  Test Offer

Lethal congenital contracture syndrome type 1 (GLE1)

Cost: 45000.00  Test Offer

Lethal congenital contracture syndrome type 4 (MYBPC1)

Cost: 45000.00  Test Offer

Limb-mammary syndrome (TP63)

Cost: 45000.00  Test Offer

Lissencephaly type 1 (PAFAH1B1)

Cost: 45000.00  Test Offer

Lissencephaly type 2 (RELN)

Cost: 45000.00  Test Offer

Lissencephaly type 3 (TUBA1A)

Cost: 45000.00  Test Offer

Lissencephaly type 5 (LAMB1)

Cost: 45000.00  Test Offer

Lissencephaly X-linked type 1 (DCX)

Cost: 45000.00  Test Offer

Lissencephaly X-linked type 2 (ARX)

Cost: 45000.00  Test Offer

Lujan-Fryns syndrome (MED12)

Cost: 45000.00  Test Offer

Lymphedema-distichiasis syndrome (FOXC2)

Cost: 45000.00  Test Offer

Mandibular hypoplasia deafness progeroid features and lipodystrophy syndrome (POLD1)

Cost: 45000.00  Test Offer

Mandibuloacral dysplasia (LMNA)

Cost: 45000.00  Test Offer

Mandibulofacial dysostosis with microcephaly (EFTUD2)

Cost: 45000.00  Test Offer

Marden-Walker syndrome (PIEZO2)

Cost: 45000.00  Test Offer

Martsolf syndrome (RAB3GAP2)

Cost: 45000.00  Test Offer

McLeod syndrome with or without chronic granulomatous disease (XK)

Cost: 45000.00  Test Offer

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (PIK3R2)

Cost: 45000.00  Test Offer

Meier-Gorlin syndrome 4 (CDT1)

Cost: 45000.00  Test Offer

Meier-Gorlin syndrome type 1 (ORC1)

Cost: 45000.00  Test Offer

Mental retardation and distinctive facial features with or without cardiac defects (MED13L)

Cost: 45000.00  Test Offer

Metaphyseal anadysplasia type 1 (MMP13)

Cost: 45000.00  Test Offer

Metaphyseal anadysplasia type 2 (MMP9)

Cost: 45000.00  Test Offer

Metaphyseal dysplasia without hypotrichosis (RMRP)

Cost: 45000.00  Test Offer

Microcephalic osteodysplastic primordial dwarfism type 1 (RNU4ATAC)

Cost: 45000.00  Test Offer

Microcephalic osteodysplastic primordial dwarfism type 2 (PCNT)

Cost: 45000.00  Test Offer

Microcephaly and chorioretinopathy with or without mental retardation (TUBGCP6)

Cost: 45000.00  Test Offer

Microcephaly with cortical malformations autosomal recessive type 2 (WDR62)

Cost: 45000.00  Test Offer

Microcephaly with epilepsy and diabetes syndrome (IER3IP1)

Cost: 45000.00  Test Offer

Microcephaly with or without chorioretinopathy Lymphedema or Mental retardation MCLMR (KIF11)

Cost: 45000.00  Test Offer

Microcephaly with symplified gyral pattern and insulin-dependant diabetes (GFM2)

Cost: 45000.00  Test Offer

Microcephaly Amish type (SLC25A19)

Cost: 45000.00  Test Offer

Microcephaly AP4M1 related (AP4M1)

Cost: 45000.00  Test Offer

Microcephaly autosomal recessive type 1 (MCPH1)

Cost: 45000.00  Test Offer

Microcephaly autosomal recessive type 11 (PHC1)

Cost: 45000.00  Test Offer

Microcephaly autosomal recessive type 12 (CDK6)

Cost: 45000.00  Test Offer

Microcephaly autosomal recessive type 13 (CENPE)

Cost: 45000.00  Test Offer

Microcephaly autosomal recessive type 3 (CDK5RAP2)

Cost: 45000.00  Test Offer

Microcephaly autosomal recessive type 4 (CASC5)

Cost: 45000.00  Test Offer

Microcephaly autosomal recessive type 5 (ASPM)

Cost: 45000.00  Test Offer

Microcephaly autosomal recessive type 6 (CENPJ)

Cost: 45000.00  Test Offer

Microcephaly autosomal recessive type 7 (STIL)

Cost: 45000.00  Test Offer

Microcephaly autosomal recessive type 8 (CEP135)

Cost: 45000.00  Test Offer

Microcephaly autosomal recessive type 9 (CEP152)

Cost: 45000.00  Test Offer

Microcephaly CEP63 related (CEP63)

Cost: 45000.00  Test Offer

Microcephaly MRE11A related (MRE11A)

Cost: 45000.00  Test Offer

Microcephaly MSMO1 related (MSMO1)

Cost: 45000.00  Test Offer

Microcephaly progressive seizures and cerebral and cerebellar atrophy (QARS)

Cost: 45000.00  Test Offer

Microcephaly TUBB2B related (TUBB2B)

Cost: 45000.00  Test Offer

Miller Dieker lissencephaly syndrome (YWHAE)

Cost: 45000.00  Test Offer

Mitochondrial complex III deficiency nuclear type 7 (UQCC2)

Cost: 45000.00  Test Offer

Mitochondrial myopathy and sideroblastic anemia type 1 (PUS1)

Cost: 45000.00  Test Offer

Multiple congenital anomalies-hypotonia-seizures syndrome type 1 (PIGN)

Cost: 45000.00  Test Offer

Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (B3GAT3)

Cost: 45000.00  Test Offer

Myhre syndrome (SMAD4)

Cost: 45000.00  Test Offer

Native American myopathy (STAC3)

Cost: 45000.00  Test Offer

Neuroaxonal neurodegeneration infantile with facial dysmophism (NALCN)

Cost: 45000.00  Test Offer

Neuroblastoma type 3 susceptibility to familial (ALK)

Cost: 45000.00  Test Offer

Nicolaides Baraitser syndrome (SMARCA2)

Cost: 45000.00  Test Offer

Nijmegen breakage syndrome (NBN)

Cost: 45000.00  Test Offer

Noonan syndrom like (SHOC2)

Cost: 45000.00  Test Offer

Noonan syndrome type 1 (PTPN11)

Cost: 45000.00  Test Offer

Noonan syndrome type 3 (KRAS)

Cost: 45000.00  Test Offer

Noonan syndrome type 4 (SOS1)

Cost: 45000.00  Test Offer

Noonan syndrome type 5 (RAF1)

Cost: 45000.00  Test Offer

Noonan syndrome type 6 (NRAS)

Cost: 45000.00  Test Offer

Noonan syndrome type 7 (BRAF)

Cost: 45000.00  Test Offer

Noonan syndrome type 8 (RIT1)

Cost: 45000.00  Test Offer

Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia (CBL)

Cost: 45000.00  Test Offer

Oculodentodigital dysplasia (GJA1)

Cost: 45000.00  Test Offer

Ogden syndrome (NAA10)

Cost: 45000.00  Test Offer

Olmsted syndrome (TRPV3)

Cost: 45000.00  Test Offer

Opitz-Kaveggia syndrome (MED12)

Cost: 45000.00  Test Offer

Orofacial cleft type 10 (SUMO1)

Cost: 45000.00  Test Offer

Orofacial cleft type 11 (BMP4)

Cost: 45000.00  Test Offer

Orofacial cleft type 5 (MSX1)

Cost: 45000.00  Test Offer

Orofacial cleft type 6 (IRF6)

Cost: 45000.00  Test Offer

Orofacial cleft type 7 (PVRL1)

Cost: 45000.00  Test Offer

Orofaciodigital syndrome type 14 (C2CD3)

Cost: 45000.00  Test Offer

Orofaciodigital syndrome type 4 (TCTN3)

Cost: 45000.00  Test Offer

Orofaciodigital syndrome type 5 (DDX59)

Cost: 45000.00  Test Offer

Osteoglophonic dysplasia (FGFR1)

Cost: 45000.00  Test Offer

Otofaciocervical syndrome (EYA1)

Cost: 45000.00  Test Offer

Otospondylomegaepiphyseal dysplasia (COL11A2)

Cost: 45000.00  Test Offer

Otospondylomegaepiphyseal dysplasia (COL2A1)

Cost: 45000.00  Test Offer

Pallister-Hall syndrome (GLI3)

Cost: 45000.00  Test Offer

Papillorenal syndrome (PAX2)

Cost: 45000.00  Test Offer

Parietal foramina type 1 (MSX2)

Cost: 45000.00  Test Offer

Pelger-Huet anomaly (LBR)

Cost: 45000.00  Test Offer

Pelvic organ prolapse LAMC1 related (LAMC1)

Cost: 45000.00  Test Offer

Perlman Syndrome (DIS3L2)

Cost: 45000.00  Test Offer

Pfeiffer syndrome (FGFR1)

Cost: 45000.00  Test Offer

Pfeiffer syndrome (FGFR2)

Cost: 45000.00  Test Offer

Phelan-McDermid syndrome (chr. 22q13.3)

Cost: 45000.00  Test Offer

Pitt-Hopkins syndrome (NRXN1)

Cost: 45000.00  Test Offer

Pitt-Hopkins syndrome (TCF4)

Cost: 45000.00  Test Offer

Pituitary adenoma growth hormone-secreting (AIP)

Cost: 45000.00  Test Offer

Pituitary hormone deficiency type 1 (POU1F1)

Cost: 45000.00  Test Offer

Pituitary hormone deficiency type 2 (PROP1)

Cost: 45000.00  Test Offer

Platyspondylic skeletal dysplasia Torrance type (COL2A1)

Cost: 45000.00  Test Offer

Polymicrogyria asymmetric (TUBB2B)

Cost: 45000.00  Test Offer

Polymicrogyria bilateral frontoparietal (GPR56)

Cost: 45000.00  Test Offer

Polymicrogyria bilateral occipital (NR2E1)

Cost: 45000.00  Test Offer

Polymicrogyria with optic nerve hypoplasia (TUBA8)

Cost: 45000.00  Test Offer

Polymicrogyria with seizures (RTTN)

Cost: 45000.00  Test Offer

Polymicrogyria perisylvian with cerebellar hypoplasia and arthrogryposis (PI4KA)

Cost: 45000.00  Test Offer

Popliteal pterygium syndrome type 1 (IRF6)

Cost: 45000.00  Test Offer

Popliteal pterygium syndrome lethal type (RIPK4)

Cost: 45000.00  Test Offer

Porencephaly familial (COL4A1)

Cost: 45000.00  Test Offer

Poretti-Boltshauser syndrome (LAMA1)

Cost: 45000.00  Test Offer

Postaxial acrofacial dysostosis (DHODH)

Cost: 45000.00  Test Offer

Prolidase deficiency (PEPD)

Cost: 45000.00  Test Offer

Prune belly syndrome (CHRM3)

Cost: 45000.00  Test Offer

RAPADILINO syndrome (RECQL4)

Cost: 45000.00  Test Offer

Rapp-Hodgkin syndrome (TP63)

Cost: 45000.00  Test Offer

Rett syndrome (MECP2)

Cost: 45000.00  Test Offer

Rett syndrome congenital variant (FOXG1)

Cost: 45000.00  Test Offer

Rhizomelic chondrodysplasia punctata type 2 (GNPAT)

Cost: 45000.00  Test Offer

Rhizomelic chondrodysplasia punctata type 3 (AGPS)

Cost: 45000.00  Test Offer

RNA processing related disorders (HNRNPU)

Cost: 45000.00  Test Offer

Roberts syndrome (ESCO2)

Cost: 45000.00  Test Offer

Robinow syndrome autosomal dominant type 1 (WNT5A)

Cost: 45000.00  Test Offer

Robinow syndrome autosomal dominant type 2 (DVL1)

Cost: 45000.00  Test Offer

Robinow syndrome autosomal recessive (ROR2)

Cost: 45000.00  Test Offer

Robinow-Sorauf syndrome (TWIST1)

Cost: 45000.00  Test Offer

Rothmund-Thomson syndrome (RECQL4)

Cost: 45000.00  Test Offer

Rubinstein-Taybi syndrome (CREBBP)

Cost: 45000.00  Test Offer

Rubinstein-Taybi syndrome (EP300)

Cost: 45000.00  Test Offer

Saethre-Chotzen syndrome (FGFR2)

Cost: 45000.00  Test Offer

Saethre-Chotzen syndrome (TWIST1)

Cost: 45000.00  Test Offer

SC Phocomelia syndrome (ESCO2)

Cost: 45000.00  Test Offer

Scaphocephaly maxillary retrusion and mental retardation (FGFR2)

Cost: 45000.00  Test Offer

Schaaf-Yang syndrome (MAGEL2)

Cost: 45000.00  Test Offer

Schinzel-Giedion midface retraction syndrome (SETBP1)

Cost: 45000.00  Test Offer

Schizencephaly (EMX2)

Cost: 45000.00  Test Offer

Schneckenbecken dysplasia (SLC35D1)

Cost: 45000.00  Test Offer

Sclerosteosis type 1 (SOST)

Cost: 45000.00  Test Offer

Seckel syndrome (ATRIP)

Cost: 45000.00  Test Offer

Seckel syndrome type 1 (ATR)

Cost: 45000.00  Test Offer

Seckel syndrome type 2 (RBBP8)

Cost: 45000.00  Test Offer

Seckel syndrome type 4 (CENPJ)

Cost: 45000.00  Test Offer

Seckel syndrome type 5 (CEP152)

Cost: 45000.00  Test Offer

Seckel syndrome type 6 (CEP63)

Cost: 45000.00  Test Offer

Seckel syndrome type 7 (NIN)

Cost: 45000.00  Test Offer

SED congenita (COL2A1)

Cost: 45000.00  Test Offer

Septooptic dysplasia (HESX1)

Cost: 45000.00  Test Offer

SERKAL syndrome (WNT4)

Cost: 45000.00  Test Offer

Severe combined immunodeficiency with microcephaly growth retardation and sensitivity to ionizing radiation (NHEJ1)

Cost: 45000.00  Test Offer

Short stature syndrome (GHR)

Cost: 45000.00  Test Offer

Short stature syndrome (SHOX)

Cost: 45000.00  Test Offer

Short stature microcephaly and endocrine dysfunction (XRCC4)

Cost: 45000.00  Test Offer

Short stature optic nerve atrophy and Pelger-Huet anomaly (NBAS)

Cost: 45000.00  Test Offer

SHORT syndrome (PIK3R1)

Cost: 45000.00  Test Offer

Short-rib thoracic dysplasia type 10 with or without polydactyly (IFT172)

Cost: 45000.00  Test Offer

Short-rib thoracic dysplasia type 11 with or without polydactyly (WDR34)

Cost: 45000.00  Test Offer

Short-rib thoracic dysplasia type 2 with or without polydactyly (IFT80)

Cost: 45000.00  Test Offer

Short-rib thoracic dysplasia type 3 with or without polydactyly (DYNC2H1)

Cost: 45000.00  Test Offer

Short-rib thoracic dysplasia type 4 with or without polydactyly (TTC21B)

Cost: 45000.00  Test Offer

Short-rib thoracic dysplasia type 5 with or without polydactyly (WDR19)

Cost: 45000.00  Test Offer

Short-rib thoracic dysplasia type 6 with or without polydactyly (NEK1)

Cost: 45000.00  Test Offer

Short-rib thoracic dysplasia type 7 with or without polydactyly (WDR35)

Cost: 45000.00  Test Offer

Short-rib thoracic dysplasia type 8 with or without polydactyly (WDR60)

Cost: 45000.00  Test Offer

Shprintzen-Goldberg syndrome (SKI)

Cost: 45000.00  Test Offer

Skeletal abnormalities CBFB related (CBFB)

Cost: 45000.00  Test Offer

SMED Strudwick type (COL2A1)

Cost: 45000.00  Test Offer

Smith-Lemli-Opitz syndrome (DHCR7)

Cost: 45000.00  Test Offer

Sotos syndrome type 1 (NSD1)

Cost: 45000.00  Test Offer

Sotos-like syndrome (NFIX)

Cost: 45000.00  Test Offer

Speech-language disorder type 1 (FOXP2)

Cost: 45000.00  Test Offer

Spina bifida folate sensitive (MTRR)

Cost: 45000.00  Test Offer

Split-hand/foot malformation type 1 with sensorineural hearing loss (DLX5)

Cost: 45000.00  Test Offer

Split-hand/foot malformation type 6 (WNT10B)

Cost: 45000.00  Test Offer

Spondylocostal dysostosis type 5 (TBX6)

Cost: 45000.00  Test Offer

Spondylo-megaepiphyseal-metaphyseal dysplasia (NKX3-2)

Cost: 45000.00  Test Offer

Spondyloperipheral dysplasia (COL2A1)

Cost: 45000.00  Test Offer

Stuve-Wiedemann syndrome (LIFR)

Cost: 45000.00  Test Offer

Syndactyly type 1 (HOXD13)

Cost: 45000.00  Test Offer

Syndactyly type 5 (HOXD13)

Cost: 45000.00  Test Offer

TANC2 related brain disorders (TANC2)

Cost: 45000.00  Test Offer

Temple-Baraitser syndrome (KCNH1)

Cost: 45000.00  Test Offer

Tetraamelia autosomal recessive (WNT3)

Cost: 45000.00  Test Offer

Three M syndrome type 1 (CUL7)

Cost: 45000.00  Test Offer

Three M syndrome type 2 (OBSL1)

Cost: 45000.00  Test Offer

Three M syndrome type 3 (CCDC8)

Cost: 45000.00  Test Offer

Toe syndactyly telecanthus and anogenital and renal malformations (FAM58A)

Cost: 45000.00  Test Offer

Tooth agenesis selective type 1 (MSX1)

Cost: 45000.00  Test Offer

Tooth agenesis selective type 3 (PAX9)

Cost: 45000.00  Test Offer

Townes-Brocks syndrome (SALL1)

Cost: 45000.00  Test Offer

Transposition of great arteries dextro-looped 3 (GDF1)

Cost: 45000.00  Test Offer

Transposition of the great arteries dextro-looped 1 (MED13L)

Cost: 45000.00  Test Offer

Treacher Collins syndrome type 1 (TCOF1)

Cost: 45000.00  Test Offer

Treacher Collins syndrome type 2 (POLR1D)

Cost: 45000.00  Test Offer

Treacher Collins syndrome type 3 (POLR1C)

Cost: 45000.00  Test Offer

Trigonocephaly type 1 (FGFR1)

Cost: 45000.00  Test Offer

Ulna and fibula absence of with severe limb deficiency (WNT7A)

Cost: 45000.00  Test Offer

Ulnar-Mammary syndrome (TBX3)

Cost: 45000.00  Test Offer

Urofacial syndrome (LRIG2)

Cost: 45000.00  Test Offer

Van den Ende-Gupta syndrome (SCARF2)

Cost: 45000.00  Test Offer

van der Woude syndrome type 1 (IRF6)

Cost: 45000.00  Test Offer

van der Woude syndrome type 2 (GRHL3)

Cost: 45000.00  Test Offer

Van Maldergem syndrome type 2 (FAT4)

Cost: 45000.00  Test Offer

Vater association (HOXD13)

Cost: 45000.00  Test Offer

Vici syndrome (EPG5)

Cost: 45000.00  Test Offer

Visceral myopathy (ACTG2)

Cost: 45000.00  Test Offer

Warburg micro syndrome type 1 (RAB3GAP1)

Cost: 45000.00  Test Offer

Warburg micro syndrome type 2 (RAB3GAP2)

Cost: 45000.00  Test Offer

Warsaw breakage syndrome (DDX11)

Cost: 45000.00  Test Offer

Weaver syndrome (EZH2)

Cost: 45000.00  Test Offer

Webb-Dattani syndrome (ARNT2)

Cost: 45000.00  Test Offer

Weill-Marchesani syndrome type 3 (LTBP2)

Cost: 45000.00  Test Offer

Werner syndrome (WRN)

Cost: 45000.00  Test Offer

Wiedemann-Steiner syndrome (KMT2A)

Cost: 45000.00  Test Offer

Williams-Beuren syndrome (chr. 7q11.23)

Cost: 45000.00  Test Offer

Witkop syndrome (MSX1)

Cost: 45000.00  Test Offer

XFE progeroid syndrome (ERCC4)

Cost: 45000.00  Test Offer

ZIC1 related brain disorders (ZIC1)

Cost: 45000.00  Test Offer

ZIC5 related brain disorders (ZIC5)

Cost: 45000.00  Test Offer