Inherited Disorders

Technologies for Detection of Inherited Disorders

PCR Technology is most commonly used for detection of targeted gene mutations (known mutation). This works for point mutations, deletions and repeats. It is economical, fast and sensitive.

RT qPCR technology is used for SNP genotyping and Gene Expression studies. It is applicable when multiple yet limited number of point mutations need to be detected. It is also useful for quantification of the mutation and in epigenetic studies.

Sanger Sequencing is a gold standard genotyping platform based on principle of capillary electrophoresis. The technology sequences short fragments (of around 800bp) per reaction and is used for genotyping or sequencing of selected areas of a gene or full gene.

MLPA or Multiplex Ligation dependent Probe Amplification is a Sanger based technology which is useful in detecting gene deletions, duplications, and insertions,  carrier detection for X-linked disorders and Microdeletion/Microduplication syndrome identification.

Cyto Microarray identifies copy number variations, unbalanced chromosomal rearrangements, loss of heterozygosity, uniparental disomy commonly seen in syndromic presentations. It is also used in detection of Microdeletion and Microduplication syndromes.

Next Generation Sequencing (NGS) allows sequencing of large number of genes (or whole genome itself) in a short amount of time economically. Most of the multi-gene panels designed by GeneTech are based on this technology.

Known or Targeted Mutation Sequencing

S.No Test Name Category Gene Method TAT (days)
1 Single Mutation(Orthogonal Confirmation) Any Disorder Any Gene Sanger 15
2 Two Mutations(Orthogonal Confirmation) Any Disorder Any Gene Sanger 15
3 Three Mutation(Orthogonal Confirmation) Any Disorder Any Gene Sanger 15

Full Gene or Multi-gene Sequencing

S.NoTest NameCategoryGeneMethodTAT (days)
1AceruloplasminemiaNeuro DegenerativeCPNGS15
2Achondrogenesis Type 1BSkeletalSLC26A2(DTDST)Sanger15
3AchondroplasiaSkeletalFGFR3Sanger15
4AchromatopsiaOpthalmicCNGB3,CNGA3,GNAT2,PDE6C, ATF6 or PDE6HNGS15
5Acute intermittent porphyriaNeuro VisceralHMBSNGS15
6Adrenal hypoplasia congenita (X linked)EndocrineNR0B1Sanger15
7AicardiGoutières syndrome PanelNeuro Degenerative / Global developmentADAR,IFIH1,RNASEH2A,RNASEH2B, RNASEH2C, SAMHD1 and TREX1NGS15
8Alagille syndromeMulti Organ SystemJAG1NGS15
9Alexander DiseaseNeuro DegenerativeGFAPSanger15
10AlkaptonuriaMetabolicHGDNGS15
11AlphamannosidosisMulti Organ SystemMAN2B1NGS15
12Alphathalassemia(Hb Bart syndrome) (HbH disease)BloodHBA1andHBA2PCR15
13Alport Syndrome Gene PanelMulti Organ SystemCOL4A5, COL4A3, COL4A4NGS15
14Alström syndromeMulti Organ SystemALMS1NGS15
15Alzheimer disease (Early onsel Familial)Neuro DegenerativeAPP,PSEN1,PSEN2NGS15
16Androgen insensitivity syndrome ARSanger15
17Angelman syndrome (Deletions, UPD and Imprinting methylation)Developmental Delay and Mental retardationUBE3AMS MLPA15
18Angelman syndrome (Deletions)Developmental Delay and Mental retardationUBE3ACyto MicroArray15
19Aplasia cutis congenita Panel (AdamsOliver syndrome gene Panel)Limb developmentARHGAP31,DOCK6,NOTCH1,RBPJ,NGS15
20Arginase deficiencyMetabolicARG1Sanger15
21Argininosuccinic aciduriaMetabolicASLNGS15
22Arts syndromeNeuro SensoryPRPS1Sanger15
23Arylsulfatase A deficiencyMetabolic / Neuro degenerativeARSASanger15
24AtaxiatelangiectasiaNeuro Degenerative / Multi Organ SystemATMNGS15
25Autism Dyslexia Microdeletion syndrome / 7q31.1 Micro deletion syndromeAutism / Mental retardationDOCK4, CNTNAP5Cyto MicroArray15
26BardetBiedl syndrome Gene Panel BBS1,ARL6(BBS3),BBS4,BBS5,MKK S(BBS6),BBS7,TTC8(BBS8),BBS10,TRIM32 (BBS11),BBS12, MKS1(BBS13),CEP290(BBS14), WDPCP(BBS15),SDCCAG8(BBS16), LZTFL1(BBS17),  BBIP1(BBS18)NGS15
27BeckwithWiedemann syndromeGrowth and DevelopmentCDKN1CMS MLPA15
28Benign neonatal epilepsy (BFNE) / Neonatal epileptic encephalopathy (NEE) Gene PanelNeuro DevelopmentKCNQ2, KCNQ3NGS15
29Beta ThalassemiaBloodHBBSanger15
30Bietti crystalline dystrophyOpthalmicCYP4V2NGS15
31Biotinidase deficiencyMetabolicBTDSanger15
32Blepharophimosis, Ptosisand Epicanthus Inversus SyndromeOpthalmicFOXL2Cyto MicroArray15
33Bloom’s syndrome BLMNGS15
34BohringOpitz syndromeGrowth and DevelopmentASXL1NGS15
35BrachydactylyMental Retardation Syndrome / 2q37 Microdeletion SyndromeNeuro Development / DysmorphologyHDAC4Cyto MicroArray15
36Branchiooculofacial syndromeMulti Organ SystemTFAP2ASanger15
37Brugada syndromeCardiacABCC9,CACNA1C,CACNA2D1,CAC NB2,GPD1L,HCN4,KCND2,KCND3,KCNE3, KCNH2,PKP2,RANGRF,SCN1B,SCN2B, SCN3B,SCN5A,  SEMA3A and TRPM4NGS15
38Calpainopathy (Pelvifemoral limbgirdle muscular dystrophy) (Scapulohumeral LGMD) (HyperCKemi a)MuscularCAPN3NGS15
39Campomelic DysplasiaSkeletalSOX9Sanger15
40CamuratiEngelmann diseaseSkeletalTGFB1Sanger15
41Canavan DiseaseGrowth and DevelopmentASPASanger15
42Cardiofaciocutaneous Gene PanelMulti Organ SystemBRAF,MAP2K1,MAP2K2, orKRASNGS15
43CharcotMarieTooth hereditary neuropathy Gene Panel (all types)Neuro DegenerativePMP22, MPZ, LITAF, EGR2, NEFL, KIF1B, MFN2, RAB7A, LMNA, MED25, TRPV4, GARS, HSPB1, GDAP1, HSPB8, AARS, DYNC1H1, LRSAM1, IGHMBP2,DNAJB2, MARS, DNM2, YARS, GNB4, MTMR2, SBF2, SH3TC2, NDRG1, EGR2, PRX, FGD4, FIG4, GJB1, AIFM1, PRPS1, PDK3NGS15
44CHARGE SyndromeMulti Organ System / DysmorphologyCHD7NGS15
45CHILD syndrome / CK SyndromeDermatology / Neuro DevelopmentNSDHLSanger15
46ChoreaacanthocytosisNeuro MuscularVPS13ANGS15
47Citrin DeficiencyMetabolicSLC25A13NGS15
48Citrullinemia type IMetabolicASS1NGS15
49Cockayne syndromeGrowth and DevelopmentERCC6, ERCC8NGS15
50Collagen type VIrelated disorders Gene Panel (Bethlem myopathy, Ullrich congenital muscular dystr ophy, Limbgirdle muscular dystrophy)MuscularCOL6A1,COL6A2 and COL6A3NGS15
51Congenital Cataract (Non syndromic Autosomal Dominant)OpthalmicCOL4A1NGS15
52Congenital erythropoietic porphyriaDermatologyUROSSanger15
53Congenital IcthyosisDermatologyABCA12, ALOX12B, ALOXE3, CYP4F22, LIPN,NIPAL4, PNPLA1,SLC27A4 and TGM1NGS15
54Congenital insensitivity to pain with AnhidrosisNeurologyNTRK1NGS15
55Congenital muscular dystrophyGene PanelMuscularPOMT1,POMT2,FKTN,FKRP,LARGE1, POMGNT, ISPD and LMNANGS15
56Congenital myasthenic syndromesMuscularCHAT,CHRNE,COLQ,DOK7,GFPT and RAPSNNGS15
57Cornelia de Lange syndromeGrowth and Development / DysmorphologyNIPBL,SMC1A,HDAC8,SMC3 and R AD21NGS15
58Corpus callosum agenesis microdeletionNeuro Development / DysmorphologyAKT3Cyto MicroArray15
59Costello Syndrome HRAS common or fgs 15
60Cranioectodermal dysplasia Gene PanelSkeletalIFT122, WDR35. WDR19, IFT43 15
61Craniosynostosis Gene Panel (Craniosynostosis, Holoprocencephaly, ectrodactyly, Muenke Diseas e)SkeletalFGFR1, FGFR2, FGFR3NGS15
62Cri du chat Syndrome / 5pSyndromeNeuro Development / DysmorphologyCTNND2Cyto MicroArray15
63Cruzon SyndromeSkeletalFGFR3Sanger15
64Currarino syndromeSkeletalHLXB9 homeobox (MNX1)Cyto MicroArray15
65Cutis Laxa Gene PanelMulti Organ SystemALDH18A1, ATP6V0A2, ATP7A, EFE MP2, ELN, FBLN5, LTBP4, PYCR1NGS15
66Cystic fibrosisPulmonaryCFTR common mutation delta 508PCR15
67Dandy–Walker syndromeNeuro DevelopmentFOXL2, ZIC1, ZIC4Cyto MicroArray15
68Deafness and myopia syndromeNeuro SensorySLITRK6Sanger15
69Duchenne and Becker muscular dystrophy (DMD / BMD) CarrierMuscularDMDMS MLPA15
70Duchenne and Becker muscular dystrophy (DMD / BMD) ProbandMuscularDMD (covers 72 deletions)MS MLPA15
71Duchenne and Becker muscular dystrophy (DMD / BMD) ProbandMuscularDMD (covers common 18 deletions)PCR15
72Dyskeratosis congenitaDermatologyRTEL1,TERC,TERT,TINF2  and WRAP5315
73Dystrophic epidermolysis bullosa (Dominant and Recessive)DermatologyCOL7A1NGS15
74EhlersDanlos syndromeGrowth and Development and DysmorphologyCNVs on 11 and 22Cyto MicroArray15
75EhlersDanlos syndromeConnective tissueCOL5A1, COL5A2, PLOD1NGS15
76EmeryDreifuss Muscular DystrophyGene PanelNeuro MuscularEMD, FHL1, LMNANGS15
77Epidermolysis bullosa Gene Panel (Simplex and pyloric atresia)DermatologyEXPH5,KRT5,KRT14,TGM5, ITGA6, ITGB4 and PLECNGS15
78Ethylmalonic encephalopathyNeuro DegenerativeETHE1Sanger15
79Fabry diseaseMulti Organ SystemGLASanger15
80Factor V Leiden thrombophiliaBloodF5PCR15
81Familial hypercholesterolemia Gene PanelCardiacAPOB,LDLR,PCSK9NGS15
82Familial hyperinsulinism Gene PanelEndocrineABCC8, KCNJ11, GLUD1, HNF4A, GCK , HADH, UCP2NGS15
83Fanconi Anemia Gene PanelBloodBRCA2, BRIP1, FANCA, FANCB, FAN CC, FANCD2, FANCE, FANCF, FANCG, FANCI, ERCC4,  FANCL, FANCM, PALB2, RAD51,RAD51C, SLX4, XRCC2NGS15
84Feingold syndrome 1Digestive / DysmorphologyMYCNSanger15
85FOXP2Related Speech and Language DisordersCongnitiveFOXP2Cyto MicroArray15
86Fragile X syndrome / Fragile Xassociated tremor/ataxia syndrome (FXTAS) / FMR1related primary ovarian insufficiencyMental retardation / GynecologyFMR1MS PCR15
87Fragile X syndrome / Fragile Xassociated tremor/ataxia syndrome (FXTAS) / FMR1related primary ovarian insufficiencyMental retardation / GynecologyFMR1PCR15
88Friedreich ataxiaNeuro MuscularFXNPCR15
89Fryns syndromeGrowth and DevelopmentCNVs on various chromosomesCyto MicroArray15
90Galactosemia (Classic, Duarte and Epimerase Deficiency)MetabolicGALT, GALENGS15
91Gaucher Disease (Type 1,2,3,lethal and cardiovascular forms)MetabolicGBASanger15
92Genitopatellar syndrome / SayBarberBiesecker variant of Ohdo syndromeGrowth and DevelopmentKAT6BNGS15
93Glycine encephalopathy Gene PanelNeuro DegenerativeGLDC, AMT and GCSHNGS15
94Glycogen Storage Disease (Type 1 to 15) GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2NGS15
95Goltz Syndrome, GoltzGorlin SyndromeDermatologyPORCNNGS15
96Greig cephalopolysyndactyly syndromeNeuro Development / DysmorphologyGLI3Cyto MicroArray15
97Hamartoma tumor syndrome (Cowden syndrome / BannayanRileyRuvalcaba syndrome / Proteus sy ndrome)Onco Predisposition Breast, Endometrium, Thyroid, ColonPTENNGS15
98HandFootGenital SyndromeUro GenitalHOXA13 (polyalanine sequence)Sanger15
99Hemophilia A F8MS MLPA15
100Hemophilia B F9MS MLPA15
101Hereditary angiopathy with nephropathy, aneurysmsand muscle cramps (HANAC) syndromeMulti Organ SystemCOL4A1NGS15
102Hereditary pancreatitis Gene PanelGastro IntestinalPRSS1, CFTR, CTRC, CASR, SPINK1NGS15
103Hereditary sensory and autonomic neuropathy type I and II Gene PanelNeuro SensorySPTLC1, WNK1RETREG1, KIF1A and SCN9ANGS15
104HFEassociated hereditary hemochromatosisGastro IntestinalHFESanger15
105Hidrotic ectodermal dysplasia 2 / Clouston syndromeDermatologyGJB6Sanger15
106Hirschsprung DiseaseGastro IntestinalRET, EDNRB, EDN3Cyto MicroArray15
107HLA GeneotypingAuto ImmuneHLA haplotypesNGS15
108Holoprocencephaly Microdeletion syndrome 13q, del(18p), del(7)(q36), dup(3)(p24pter), del(2)(p21), and del(21)(q22.3)Neuro DevelopmentSHH, ZIC2, SIX3, TGIF1, GLI2, PTCH1 and others 13q, del(18p), del(7)(q36), dup(3)(p24pter), del(2)(p21) and del(21)(q22.3)Cyto MicroArray15
109HoltOram syndromeCardiac / SkeletalTBX5Sanger15
110Homocystinuria caused by cystathionine βsynthase (CBS) deficiencyMetabolicCBSNGS15
111Huntington diseaseNeuro DegenerativeHTTPCR15
112Huntington Diseaselike 2Neuro DegenerativeJPH3PCR15
113HyperornithinemiaHyperammonemiaHomocitrullinuria (HHH) SyndromeMetabolicSLC25A15NGS15
114HypochondroplasiaSkeletalFGFR3Sanger15
115HypophosphatasiaMetabolicALPLNGS15
116Hypotonia Cystinuria SyndromeNeuro Degenerative / RenalSLC3A1, PREPL, PPM1B, C2ORF34Cyto MicroArray15
117IMAGe syndromeFetal growth and developmentCDKN1CSanger15
118Incontinentia pigmentiDermatology / Neuro DevelopmentIKBKGPCR15
119Isolated Aniridia / Wilms tumoraniridiagenital anomaliesretardation (WAGR) syndromeOpthalmicPAX6, WTCyto MicroArray15
120Jacobsen syndromeNeuro Development / DysmorphologyARHGA, ETS1, FLICyto MicroArray15
121Joubert Syndrome (types 1 to 34) Gene PanelNeuro DevelopmentAHI1, CPLANE1, CC2D2A, CEP290, CSPP1, INPP5E, MKS1, NPHP1, RPGRIP1L, TCTN2, TMEM67, SUFU, ARL13B, B9D1, B9D2, CEP41, IFT172, KIF7, OFD1, POC1B, PIBF1, TCTN1, TCTN3, TMEM138, TMEM231, TMEM237, TTC21B, ZNF423NGS15
122Junctional epidermolysis bullosaDermatologyLAMB3, COL17A1,LAMC2and LAM  A3NGS15
123Juvenile hemochromatosis Gene PanelGastro IntestinalHJV(HFE2), HAMP (HEPC)NGS15
124Juvenile polyposis syndrome Gene PanelGastro IntestinalBMPR1A,SMAD4NGS15
125Kabuki syndromeMulti Organ System / DysmorphologyKDM6ANGS15
126Kallman SyndromeNeuro SensoryANOS1,CHD7,FGF8,FGFR1,PROK2, P ROKR2NGS15
127KANSL1related intellectual disability syndrome / 17q21.31  Micro Deletion SyndromeMental retardation Cyto MicroArray15
128KBG syndromeGrowth and Development / DysmorphologyANKRD11Cyto MicroArray15
129Kindler syndromeDermatologyFERMT1NGS15
130Kleefstra syndrome / Microdeletion of 9q34.3Multi Organ System / DysmorphologyEHMT1Cyto MicroArray15
131KMT2Brelated dystonia (DYTKMT2B)Neuro DevelopmentKMT2BCyto MicroArray15
132L1 syndromeNeuro DevelopmentL1CAMNGS15
133LAMA2related muscular dystrophyMuscularLAMA2Cyto MicroArray15
134Langer Giedion Syndrome (Trichorhinophalangeal syndrome II)Growth and DevelopmentTRPS1, RAD21 and EXT1Cyto MicroArray15
135Lateral meningocele syndromeNeuro DevelopmentNOTCH3NGS15
136Leber hereditary optic neuropathyOpthalmicMTND1,MTND2,MTND4,MTND4L, MTND5 and MTND6NGS15
137Legius syndromeNeuro DevelopmentSPRED1NGS15
138Leigh Syndrome NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1,  NDUFA2, NDUFA9, NDUFAF2, NDUFAF5,  NDUFAF6, FOXRED1, SDHA, UQCRQ, TTC19, BCS1L, NDUFA4, SURF1, COX10, COX15, SCO2, LRPPRC, TACO1, PET100, PDHA1, NDUFA1, AIFM1NGS15
139Lenz microphthalmia syndromeOpthalmic / DysmorphologyBCOR or NAA10PCR15
140LeriWeill dyschondrosteosis / Short stature caused by SHOX deficiencySkeletalSHOXCyto MicroArray15
141LeschNyhan SyndromeNeuro DevelopmentHPRT1NGS15
142Leukodystrophies Gene Panel GBE1, TREX1, RNASEH2A, RNASEH2 B, RNASEH2C, SAMHD1, ADAR, G6FAP, LMNB1, ASPA, CYP27A1, EIF2B1, SLC17A5, FUCA1, TUBB4A, FAM126A, GALC, L2HGDH, DARS2, EARS2, MLC1, HEPACAM, ARSA, PSAP, SUMF1, CSF4R, GJA1, PLP1, GJC2, PEX1,POLR3A, POLR3B, RNASET2, ALDH3A2, SOX10, ABCD1NGS15
143Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationNeuro DevelopmentDARS2NGS15
144LiFraumeni syndrome associated with premenopausal breast cancer (BRCA negative)Onco Predisposition BreastTP53NGS15
145LMNArelated dilated cardiomyopathyCardiacLMNANGS15
146LoeysDietz Syndrome / Marfan Syndrome Type 2 Gene PanelMulti Organ SystemSMAD2,SMAD3,TGFB2,TGFB3,TGF BR1, or TGFBR2NGS15
147Long QT syndrome Gene PanelCardiacAKAP9,ANK2,CACNA1C,CALM1, CAV3,KCNE1,KCNE2,KCNH2,KCNJ5, KCNQ1,SCN4B,SCN5Aand SNTA1NGS15
148Lowe SyndromeOpthalmic / Growth and development / RenalOCRLNGS15
149Lujan syndrome / Ohdo syndrome / FG syndrome type 1Dysmorphology / Intellectual DisabilityMED12NGS15
150Lymphedemadistichiasis syndromeLymphaticFOXC2Sanger15
151Lymphoproliferative disease X linkedImmuno Deficiency / Gastro IntestinalSH2D1A, XIAPNGS15
152Lynch syndrome with associated Ovarian cancer riskOnco Predisposition OvaryMLH1,MSH2,MSH6 and PMS2NGS15
153Lysinuric protein intoleranceMetabolicSLC7A7NGS15
154lysosomal acid lipase (LAL) deficiency / Wolman disease / cholesterol ester storage diseaseMetabolicLIPANGS15
155Majeed syndromeSkeletalLPIN2NGS15
156Mandibulofacial dysostosis with microcephaly (MFDM)Dysmorphology / Multi Organ SystemEFTUD2NGS15
157Manitoba oculotrichoanal (MOTA) syndromeDysmorphology /Growth and DevelopmentFREM1NGS15
158Maple syrup urine disease (MSUD) Type 1A, 1B and 2 Gene PanelMetabolicBCKDHA, BCKDHB, DBTNGS15
159Marfan syndromeSkeletal / Dysmorphology / Multi Organ SystemFBN1NGS15
160MarinescoSjögren syndromeMulti Organ SystemSIL1NGS15
161MBD5 Haploinsufficiency / 2q23.1 Microdeletion SyndromeNeuro DevelopmentMBD5Cyto MicroArray15
162McKusickKaufman syndromeReproductive DevelopmentMKKSSanger15
163MECP2Duplication SyndromeNeuro DevelopmentMECP2Cyto MicroArray15
164Mediumchain acylcoenzyme A dehydrogenase (MCAD)MetabolicACADMNGS15
165MEGDEL syndromeNeuro Sensory / Neuro DevelopmentSERAC1NGS15
166MELAS (mitochondrialencephalomyopathy,lacticacidosis, andstrokelike episodes)Neuro DevelopmentMTTC,MTTK,MTTV,MTTF,MTTQ,MTTS1, MTTS2and MTTW, MTCO1, MTCO2, MTCO3,MTCYB,MTND1,MTND3and MTND6 15
167MERRF (myoclonicepilepsy withraggedredfibers)Multi Organ System / Neuro DevelopmentMTTK,MTTF,MTTL1,MTTI and MTTP 15
168Methylmalonic acidemiaMetabolicMUT, MMAA,MMAB,MCEE and MMADHCNGS15
169Microcephalycapillary malformationGrowth and Development / DysmorphologySTAMBPNGS15
170Microphthalmia with linear skin defects (MLS) syndrome / Monosomy of Xp22 regionGrowth and Development / DysmorphologyHCCSCyto MicroArray15
171Microphthalmia,anophthalmiaand coloboma spectrum of disorders (Micro deletion duplication syndromes Wolf Hirschhorn, 13q, 14q22.1q23.1, 18q, 3q26, 10q+, 4p+)Cyto MicroArray15
172MIDAS syndrome / Microphthalmia with linear skin defects syndromeMulti Organ System / DysmorphologyHCCSCyto MicroArray15
173Miller Dieker SyndromeNeuro Development / DysmorphologyPAFAH1B1, YWHAECyto MicroArray15
174Mitochondrial Disorders Deletion syndromesMulti Organ SystemMt genesMS MLPA15
175MowatWilson SyndromeMulti Organ SystemZEB2Cyto MicroArray15
176MPPH syndrome Gene PanelNeuro DevelopmentAKT3,PIK3R2NGS15
177MPV17related encephalohepatopathy, including Navajo neurohepatopathyNeuro DevelopmentMPV17NGS15
178MTHFR related ThrombophiliaBloodMTHFRPCR15
179MucolipidosisMetabolic / Growth and Development / DysmorphologyGNPTAB, MCOLN1NGS15
180Mucopolysaccharidosis (Type 1 (Hurler syndrome), 2 (Hunter syndrome),3 (Sanfilippo Syndrome), 4 (Morquio syndrome), 5, 6, 7)MetabolicIDUA, IDS, GALNS, GNS, HGSNAT, NAGLU, SGSH, GLB1, ARSB, GUSB, GNPTAB, GNPTGNGS15
181Muenke syndromeSkeletalFGFR3NGS15
182Multiple endocrine neoplasia type 1 (MEN1) syndromeOnco Predisposition EndocrineMEN1NGS15
183Multiple endocrine neoplasia type 2 (MEN 2)Onco Predisposition EndocrineRETNGS15
184MUTYHassociated polyposisOnco Predisposition ColonMUTYHNGS15
185Myotonic dystrophy type 1MuscularDMPKPCR15
186Myotonic dystrophy type 2MuscularCNBPPCR15
187Nailpatella syndrome / Fong DiseaseSkeletalLMX1BNGS15
188NanceHoran syndromeMulti Organ SystemNHSCyto MicroArray15
189Nemaline myopathyNeuro MuscularNEB,ACTA1, TPM2, TPM3, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41NGS15
190Neonatal Diabets Panel (Maturityonset diabetes of the young (MODY) / Permanent neonatal diabet es mellitus )EndocrineABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1NGS15
191 PANK2,PLA2G6,C19orf12,FA2H,ATP 13A2,WDR45,COASY,FTL,CP, andDCAF17.NGS15
192Neurofibromatosis Type 1 and 2Neuro DevelopmentNF1, NF2NGS15
193Nevoid Basal Cell Carcinoma SyndromeOnco Predisposition Ovary skeletal / DysmorphologyPTCH1, SUFUNGS15
194Nicolaides Baraitser SyndromeGrowth and Development / DysmorphologySMARCA2NGS15
195Niemann Pick Disease Type A / Type BNeuro DegenerativeSMPD1Sanger15
196Niemann Pick Disease Type A, B, C Gene Panel NPC1, NPC2, SMPD1NGS15
197Nijmegen breakage syndromeGrowth and Development / Immuno deficiency / Onco Predispositi on BloodNBNNGS15
198Nonsyndromic 46,XX testicular disorders of sex developmentReproductive DevelopmentSRY, SOX9, SOX3Cyto MicroArray15
199Noonan syndrome Gene PanelReproductive Development / DysmorphologyPTPN11, SOS1, RAF1, RITI, KRAS, NIR AS, BRAF, MAP2K1NGS15
200Ocular albinism X linkedOpthalmicGPR143NGS15
201Oculocutaneous albinism type 1,2,3,4,5,6,7 Gene Panel 4DermatologyTYR, OCA2, TYRP1, SLC45A2, SLC24A 5NGS15
202Oculocutaneous albinism type 1A, 1B – Full Gene TRY sequencingDermatologyTYRSanger15
203Optic atrophy type 1 / Kjer type optic atrophyOpthalmicOPA1NGS15
204Oralfacialdigital syndrome type IFetal growth and developmentOFD1NGS15
205Ornithine Transcarbamylase (OTC) DeficiencyMetabolicOTCNGS15
206Osteogenesis imperfecta (COL1A1 and COL1A2 related)SkeletalCOL1A1, COL1A2NGS15
207OTOFrelated deafness (Prelingual nonsyndromic hearing loss, Temperaturesensitive nonsyndromic auditory neuropathy )ENTOTOFNGS15
208Otopalatodigital Spectrum Disorders (OSD 1, OSD 2, Frontometaphyseal dysplasia, MelnickNeedles syndrome, Terminal osseous dysplasia with pigmentary skin defects)Skeletal / Growth and Dvelopment / DysmorphologyFLNANGS15
209Pachyonychia congenitaSkeletal / DermatologyKRT6A, KRT6CNGS15
210PallisterHall syndromeGrowth and Development / NeonatalGLI3NGS15
211PARK2 Micro deletion SyndromeNeuro Development / DysmorphologyPARK2Cyto MicroArray15
212Parkes Weber syndromeDysmorphology / Growth and DevelopmentRASA1NGS15
213Pelizaeus Merzbacher Disease / Spastic paraplegia 2Neuro DegenerativePLP1Cyto MicroArray15
214Pelizaeus Merzbacher Like Disease 1Neuro DegenerativeGJC2Sanger15
215Pendred syndrome / Nonsyndromic enlarged vestibular aqueductENTSLC26A4,FOXI1,KCNJ10NGS15
216Perrault syndromeENT / Reproductive developmentHARS2, HSD17B4, LARS2,CLPPNGS15
217Peters plus syndromeDevelopmental delay / intellectual disabilityB3GLCTSanger15
218Peutz Jeghers syndromeGastro Intestinal / Onco Predisposition Uterus, testicular, Intestin alSTK11NGS15
219PhelanMcDermid syndrome/22q13.3 Micro deletion syndromeGrowth and DevelopmentSHANK3Cyto MicroArray15
220Phenylalanine hydroxylaseMetabolicPAHNGS15
221PIK3CAassociated Segmental Overgrowth (CLOVES syndrome, Megalencephalycapillary malformat ion syndrome , Fibroadipose hyperplasia, Hemimegalencephaly)Dysmorphology / Neuro DevelopmentPIK3CANGS15
222PittHopkins SyndromeGrowth and DevelopmentTCF4Cyto MicroArray15
223Poikiloderma with neutropeniaBloodUSB1NGS15
224Polycystic Kidney Disease (ADPKD, ARPKD)RenalPKD1, PKD2, PKHD1NGS15
225Pompe diseaseMulti Organ SystemGAANGS15
226Porencephaly Autosomal DomiantNeuro DevelopmentCOL4A1NGS15
227PotockiLupski syndrome / 17p11.2 Micro Deletion SyndromeCognitive and BehaviouralRAI1, FLCNCyto MicroArray15
228Praderwilli SyndromeDevelopmental Delay and Mental retardationUBE3ACyto MicroArray15
229Praderwilli Syndrome (Deletions, UPD and Imprinting methylation)Developmental Delay and Mental retardationUBE3AMS MLPA15
230Primary Congenital GlaucomaOpthalmicCYP1B1, LTBP2, TEK,NGS15
231Primary Familial brain calcificationNeuro DevelopmentPDGFB,PDGFRB,SLC20A2NGS15
232Primary hyperoxaluria Type 1, 2, 3Gene PanelRenalAGXT, GRHPR, HOGA1NGS15
233Propionic acidemiaMetabolicPCCA, PCCBNGS15
234Prothrombin related ThrombophiliaBloodF2PCR15
235PseudoachondroplasiaSkeletalCOMPNGS15
236PseudohypoaldosteronismRenalNR3C2, SCNN1A, SCNN1B, SCNN1G, CUL3,KLHL3,WNK1,WNK4, KLHL3NGS15
237PURAsyndrome / 5q31.3 Micro deletion syndromeNeuro DevelopmentPURACyto MicroArray15
238Recurrent 1q21.1 MicrodeletionNeuro Development / Dysmorphology~1.35Mb deletionCyto MicroArray15
239Retinitis Pigmentosa (AD, AR, Xlinked, Digenic)Opthalmic24 AD genes, 51 AR genes, 3 X linked, 2 DigenicNGS15
240RetinoblastomaOpthalmicRB1NGS15
241Rett syndrome / PPMX syndrome / MECP2related severe neonatal encephalopathyNeuro DevelopmentMECP2Sanger15
242RhD prenatal diagmosisReproductive DevelopmentRhDRT QPCR15
243Rhizomelic Chondrodysplasia Punctata Type 1SkeletalPEX7NGS15
244Roberts SyndromeFetal growth and developmentESCO2NGS15
245Robinow SyndromeDysmorphology / Growth and DevelopmentROR2NGS15
246Rothmund Thomson SyndromeDysmorphology / Growth and DevelopmentRECQL4NGS15
247Rubinstein Taybi SyndromeDysmorphology / Growth and DevelopmentCREBBP, EP300Cyto MicroArray15
248Russel Silver SyndromeGrowth and DevelopmentCDKN1CMS MLPA15
249Saethre Chotzen SyndromeDysmorphology / Growth and DevelopmentTWIST1Cyto MicroArray15
250Schimke Immunoosseous DysplasiaImmuno Deficiency / Multi Organ SystemSMARCAL1NGS15
251Seckel Syndrome / Autosomal Recessive Microcephaly Gene PanelNeuro DevelopmentMCPH1,WDR62, CDK5RAP2, ASPM, STIL, CEP135, ATR, NIN, RBBP8, CEP152, CENPJ, CEP63NGS15
252SHORT SyndromeSkeletal / DysmorphologyPIK3R1NGS15
253Short-chain-Acyl-CoA Dehydrogenase (SCAD) deficiencyMetabolicACADSNGS15
254Shprintzen-Goldberg syndromeMulti Organ SystemSKINGS15
255Skeletal Dysplasia Gene Panel (FGFR3 related disorders)SkeletalFGFR3Sanger15
256Smith-Lemli-Opitz SyndromeDysmorphology / Growth and DevelopmentDHCR7NGS15
257Smith-Magenis SyndromeDysmorphology / Growth and DevelopmentRAI1Cyto MicroArray15
258Snyder-Robinson SyndromeDysmorphology / Growth and DevelopmentSMSNGS15
259Sotos SyndromeDysmorphology / Growth and DevelopmentNSD1NGS15
260Spinal and bulbar muscular atrophyMuscularARNGS15
261Spinal muscular atrophy (SMA)MuscularSMN1, SMN2, NAIPPCR15
262Spinal muscular atrophy X linked infantileNeuro DegenerativeUBA1NGS15
263Spinocerebellar Ataxia (Infantile-Onset)Neuro DegenerativeTWNKSanger15
264Spinocerebellar ataxia type 1 (SCA1)Neuro DegenerativeATXN1PCR15
265Spinocerebellar ataxia type 2 (SCA2)Neuro DegenerativeATXN2PCR15
266Spinocerebellar ataxia type 3 (SCA3)Neuro DegenerativeATXN3PCR15
267Split Hand Foot malformation 1 (SHFM1)Skeletal / DysmorphologyDSS1, DLX5 , DLX6Cyto MicroArray15
268Stickler syndromeMulti Organ SystemCOL2A1,COL11A1, COL11A2, COL9A1 ,COL9A2, COL9A3NGS15
269Systemic primary carnitine deficiencyMetabolicSLC22A5NGS15
270Thanatropic DysplasiaSkeletalFGFR3Sanger15
271Thrombophilia Gene PanelBloodF5, MTHFR, F2PCR15
272Timothy syndromeNeuro Development / DysmorphologyCACNA1CNGS15
273Townes-Brocks syndromeMulti Organ System / DysmorphologySALL1NGS15
274Treacher Collins syndromeSkeletal / Neuro sensoryTCOF1, POLR1D, POLR1CNGS15
275Tuberous sclerosis complexDermatologyTSC1, TSC2NGS15
276TubulinopathiesNeuro DevelopmentTUBA1A,TUBB2A, TUBB2B,TUBB3, TUBB[TUBB5], TUBG1, TUBA8, TUBG1NGS15
277Tyrosinemia type IMetabolicFAHNGS15
278Unverricht-Lundborg DiseaseNeuro DegenerativeCSTBPCR15
279Usher syndrome type INeuro Sensory / OpthamicMYO7A, USH1C, CDH23, PCDH15, US H1G, CIB2, ADGRV1, WHRN (DFNB31)and USH2ANGS15
280Van der Woude syndrome / Popliteal pterygium syndromeNeuro Development / DysmorphologyVWS, PPSCyto MicroArray15
281Variegate PorphyriaDermatologyPPOXNGS15
282Very long-chain-Acyl-CoA dehydrogenaseMetabolicACADVLNGS15
283Von Hippel Lindau (VHL) syndromeNeuro EndocrineVHLCyto MicroArray15
284Waardenburg syndrome type IENT / DermatologyPAX3NGS15
285Warburg micro syndromeMulti Organ SystemRAB3GAP1,RAB3GAP2,RAB18, TBC1 D20NGS15
286Weill-Marchesani syndromeOpthalmic / DysmorphologyADAMTS10, FBN1, LTBP2NGS15
287Werner syndromeOnco Predisposition / Multi organWRNNGS15
288Williams Syndrome / 7q11.23 deletion syndrome / Williams-Beuren syndromeCardiacWBSCR critical regionCyto MicroArray15
289Wilson diseaseGastro IntestinalATP7BNGS15
290Wolf Hirschhorn Syndrome / 4p16.3 deletion syndrome WHSCR critical regionCyto MicroArray15
291Woodhouse-Sakati SyndromeReproductive Development / Dermatology / EndocrineDCAF17NGS15
292Xeroderma PigmentosumDermatologyDDB2,ERCC1,ERCC2,ERCC3,ERCC4, ERCC5,POLH,XPA, orXPC.NGS15
293Xp21 deletion (DMD like)  Cyto MicroArray15
294Xq28 Duplication SyndromeCognitive and Behaviouralint22h1/int22h2Cyto MicroArray15
295Y Micro DeletionsReproductive Development / Male InfertilityAZFPCR15
296Zellweger spectrum disorder (Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Re fsum Syndrome)Neuro DegenerativePEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26NGS15