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.No Test Name Category Gene Method TAT (days)
1 Aceruloplasminemia Neuro Degenerative CP NGS 15
2 Achondrogenesis Type 1B Skeletal SLC26A2(DTDST) Sanger 15
3 Achondroplasia Skeletal FGFR3 Sanger 15
4 Achromatopsia Opthalmic CNGB3,CNGA3,GNAT2,PDE6C, ATF6 or PDE6H NGS 15
5 Acute intermittent porphyria Neuro Visceral HMBS NGS 15
6 Adrenal hypoplasia congenita (X linked) Endocrine NR0B1 Sanger 15
7 AicardiGoutières syndrome Panel Neuro Degenerative / Global development ADAR,IFIH1,RNASEH2A,RNASEH2B, RNASEH2C, SAMHD1 and TREX1 NGS 15
8 Alagille syndrome Multi Organ System JAG1 NGS 15
9 Alexander Disease Neuro Degenerative GFAP Sanger 15
10 Alkaptonuria Metabolic HGD NGS 15
11 Alphamannosidosis Multi Organ System MAN2B1 NGS 15
12 Alphathalassemia(Hb Bart syndrome) (HbH disease) Blood HBA1andHBA2 PCR 15
13 Alport Syndrome Gene Panel Multi Organ System COL4A5, COL4A3, COL4A4 NGS 15
14 Alström syndrome Multi Organ System ALMS1 NGS 15
15 Alzheimer disease (Early onsel Familial) Neuro Degenerative APP,PSEN1,PSEN2 NGS 15
16 Androgen insensitivity syndrome AR Sanger 15
17 Angelman syndrome (Deletions, UPD and Imprinting methylation) Developmental Delay and Mental retardation UBE3A MS MLPA 15
18 Angelman syndrome (Deletions) Developmental Delay and Mental retardation UBE3A Cyto MicroArray 15
19 Aplasia cutis congenita Panel (AdamsOliver syndrome gene Panel) Limb development ARHGAP31,DOCK6,NOTCH1,RBPJ, NGS 15
20 Arginase deficiency Metabolic ARG1 Sanger 15
21 Argininosuccinic aciduria Metabolic ASL NGS 15
22 Arts syndrome Neuro Sensory PRPS1 Sanger 15
23 Arylsulfatase A deficiency Metabolic / Neuro degenerative ARSA Sanger 15
24 Ataxiatelangiectasia Neuro Degenerative / Multi Organ System ATM NGS 15
25 Autism Dyslexia Microdeletion syndrome / 7q31.1 Micro deletion syndrome Autism / Mental retardation DOCK4, CNTNAP5 Cyto MicroArray 15
26 BardetBiedl 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) NGS 15
27 BeckwithWiedemann syndrome Growth and Development CDKN1C MS MLPA 15
28 Benign neonatal epilepsy (BFNE) / Neonatal epileptic encephalopathy (NEE) Gene Panel Neuro Development KCNQ2, KCNQ3 NGS 15
29 Beta Thalassemia Blood HBB Sanger 15
30 Bietti crystalline dystrophy Opthalmic CYP4V2 NGS 15
31 Biotinidase deficiency Metabolic BTD Sanger 15
32 Blepharophimosis, Ptosisand Epicanthus Inversus Syndrome Opthalmic FOXL2 Cyto MicroArray 15
33 Bloom’s syndrome BLM NGS 15
34 BohringOpitz syndrome Growth and Development ASXL1 NGS 15
35 BrachydactylyMental Retardation Syndrome / 2q37 Microdeletion Syndrome Neuro Development / Dysmorphology HDAC4 Cyto MicroArray 15
36 Branchiooculofacial syndrome Multi Organ System TFAP2A Sanger 15
38 Calpainopathy (Pelvifemoral limbgirdle muscular dystrophy) (Scapulohumeral LGMD) (HyperCKemi a) Muscular CAPN3 NGS 15
39 Campomelic Dysplasia Skeletal SOX9 Sanger 15
40 CamuratiEngelmann disease Skeletal TGFB1 Sanger 15
41 Canavan Disease Growth and Development ASPA Sanger 15
42 Cardiofaciocutaneous Gene Panel Multi Organ System BRAF,MAP2K1,MAP2K2, orKRAS NGS 15
43 CharcotMarieTooth hereditary neuropathy Gene Panel (all types) Neuro Degenerative PMP22, 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, PDK3 NGS 15
44 CHARGE Syndrome Multi Organ System / Dysmorphology CHD7 NGS 15
45 CHILD syndrome / CK Syndrome Dermatology / Neuro Development NSDHL Sanger 15
46 Choreaacanthocytosis Neuro Muscular VPS13A NGS 15
47 Citrin Deficiency Metabolic SLC25A13 NGS 15
48 Citrullinemia type I Metabolic ASS1 NGS 15
49 Cockayne syndrome Growth and Development ERCC6, ERCC8 NGS 15
50 Collagen type VIrelated disorders Gene Panel (Bethlem myopathy, Ullrich congenital muscular dystr ophy, Limbgirdle muscular dystrophy) Muscular COL6A1,COL6A2 and COL6A3 NGS 15
51 Congenital Cataract (Non syndromic Autosomal Dominant) Opthalmic COL4A1 NGS 15
52 Congenital erythropoietic porphyria Dermatology UROS Sanger 15
53 Congenital Icthyosis Dermatology ABCA12, ALOX12B, ALOXE3, CYP4F22, LIPN,NIPAL4, PNPLA1,SLC27A4 and TGM1 NGS 15
54 Congenital insensitivity to pain with Anhidrosis Neurology NTRK1 NGS 15
55 Congenital muscular dystrophyGene Panel Muscular POMT1,POMT2,FKTN,FKRP,LARGE1, POMGNT, ISPD and LMNA NGS 15
56 Congenital myasthenic syndromes Muscular CHAT,CHRNE,COLQ,DOK7,GFPT and RAPSN NGS 15
57 Cornelia de Lange syndrome Growth and Development / Dysmorphology NIPBL,SMC1A,HDAC8,SMC3 and R AD21 NGS 15
58 Corpus callosum agenesis microdeletion Neuro Development / Dysmorphology AKT3 Cyto MicroArray 15
59 Costello Syndrome HRAS common or fgs 15
60 Cranioectodermal dysplasia Gene Panel Skeletal IFT122, WDR35. WDR19, IFT43 15
61 Craniosynostosis Gene Panel (Craniosynostosis, Holoprocencephaly, ectrodactyly, Muenke Diseas e) Skeletal FGFR1, FGFR2, FGFR3 NGS 15
62 Cri du chat Syndrome / 5pSyndrome Neuro Development / Dysmorphology CTNND2 Cyto MicroArray 15
63 Cruzon Syndrome Skeletal FGFR3 Sanger 15
64 Currarino syndrome Skeletal HLXB9 homeobox (MNX1) Cyto MicroArray 15
65 Cutis Laxa Gene Panel Multi Organ System ALDH18A1, ATP6V0A2, ATP7A, EFE MP2, ELN, FBLN5, LTBP4, PYCR1 NGS 15
66 Cystic fibrosis Pulmonary CFTR common mutation delta 508 PCR 15
67 Dandy–Walker syndrome Neuro Development FOXL2, ZIC1, ZIC4 Cyto MicroArray 15
68 Deafness and myopia syndrome Neuro Sensory SLITRK6 Sanger 15
69 Duchenne and Becker muscular dystrophy (DMD / BMD) Carrier Muscular DMD MS MLPA 15
70 Duchenne and Becker muscular dystrophy (DMD / BMD) Proband Muscular DMD (covers 72 deletions) MS MLPA 15
71 Duchenne and Becker muscular dystrophy (DMD / BMD) Proband Muscular DMD (covers common 18 deletions) PCR 15
72 Dyskeratosis congenita Dermatology RTEL1,TERC,TERT,TINF2  and WRAP53 15
73 Dystrophic epidermolysis bullosa (Dominant and Recessive) Dermatology COL7A1 NGS 15
74 EhlersDanlos syndrome Growth and Development and Dysmorphology CNVs on 11 and 22 Cyto MicroArray 15
75 EhlersDanlos syndrome Connective tissue COL5A1, COL5A2, PLOD1 NGS 15
76 EmeryDreifuss Muscular DystrophyGene Panel Neuro Muscular EMD, FHL1, LMNA NGS 15
77 Epidermolysis bullosa Gene Panel (Simplex and pyloric atresia) Dermatology EXPH5,KRT5,KRT14,TGM5, ITGA6, ITGB4 and PLEC NGS 15
78 Ethylmalonic encephalopathy Neuro Degenerative ETHE1 Sanger 15
79 Fabry disease Multi Organ System GLA Sanger 15
80 Factor V Leiden thrombophilia Blood F5 PCR 15
81 Familial hypercholesterolemia Gene Panel Cardiac APOB,LDLR,PCSK9 NGS 15
82 Familial hyperinsulinism Gene Panel Endocrine ABCC8, KCNJ11, GLUD1, HNF4A, GCK , HADH, UCP2 NGS 15
84 Feingold syndrome 1 Digestive / Dysmorphology MYCN Sanger 15
85 FOXP2Related Speech and Language Disorders Congnitive FOXP2 Cyto MicroArray 15
86 Fragile X syndrome / Fragile Xassociated tremor/ataxia syndrome (FXTAS) / FMR1related primary ovarian insufficiency Mental retardation / Gynecology FMR1 MS PCR 15
87 Fragile X syndrome / Fragile Xassociated tremor/ataxia syndrome (FXTAS) / FMR1related primary ovarian insufficiency Mental retardation / Gynecology FMR1 PCR 15
88 Friedreich ataxia Neuro Muscular FXN PCR 15
89 Fryns syndrome Growth and Development CNVs on various chromosomes Cyto MicroArray 15
90 Galactosemia (Classic, Duarte and Epimerase Deficiency) Metabolic GALT, GALE NGS 15
91 Gaucher Disease (Type 1,2,3,lethal and cardiovascular forms) Metabolic GBA Sanger 15
92 Genitopatellar syndrome / SayBarberBiesecker variant of Ohdo syndrome Growth and Development KAT6B NGS 15
93 Glycine encephalopathy Gene Panel Neuro Degenerative GLDC, AMT and GCSH NGS 15
94 Glycogen 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, PHKG2 NGS 15
95 Goltz Syndrome, GoltzGorlin Syndrome Dermatology PORCN NGS 15
96 Greig cephalopolysyndactyly syndrome Neuro Development / Dysmorphology GLI3 Cyto MicroArray 15
97 Hamartoma tumor syndrome (Cowden syndrome / BannayanRileyRuvalcaba syndrome / Proteus sy ndrome) Onco Predisposition Breast, Endometrium, Thyroid, Colon PTEN NGS 15
98 HandFootGenital Syndrome Uro Genital HOXA13 (polyalanine sequence) Sanger 15
99 Hemophilia A F8 MS MLPA 15
100 Hemophilia B F9 MS MLPA 15
101 Hereditary angiopathy with nephropathy, aneurysmsand muscle cramps (HANAC) syndrome Multi Organ System COL4A1 NGS 15
102 Hereditary pancreatitis Gene Panel Gastro Intestinal PRSS1, CFTR, CTRC, CASR, SPINK1 NGS 15
103 Hereditary sensory and autonomic neuropathy type I and II Gene Panel Neuro Sensory SPTLC1, WNK1RETREG1, KIF1A and SCN9A NGS 15
104 HFEassociated hereditary hemochromatosis Gastro Intestinal HFE Sanger 15
105 Hidrotic ectodermal dysplasia 2 / Clouston syndrome Dermatology GJB6 Sanger 15
106 Hirschsprung Disease Gastro Intestinal RET, EDNRB, EDN3 Cyto MicroArray 15
107 HLA Geneotyping Auto Immune HLA haplotypes NGS 15
108 Holoprocencephaly Microdeletion syndrome 13q, del(18p), del(7)(q36), dup(3)(p24pter), del(2)(p21), and del(21)(q22.3) Neuro Development SHH, 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 MicroArray 15
109 HoltOram syndrome Cardiac / Skeletal TBX5 Sanger 15
110 Homocystinuria caused by cystathionine βsynthase (CBS) deficiency Metabolic CBS NGS 15
111 Huntington disease Neuro Degenerative HTT PCR 15
112 Huntington Diseaselike 2 Neuro Degenerative JPH3 PCR 15
113 HyperornithinemiaHyperammonemiaHomocitrullinuria (HHH) Syndrome Metabolic SLC25A15 NGS 15
114 Hypochondroplasia Skeletal FGFR3 Sanger 15
115 Hypophosphatasia Metabolic ALPL NGS 15
116 Hypotonia Cystinuria Syndrome Neuro Degenerative / Renal SLC3A1, PREPL, PPM1B, C2ORF34 Cyto MicroArray 15
117 IMAGe syndrome Fetal growth and development CDKN1C Sanger 15
118 Incontinentia pigmenti Dermatology / Neuro Development IKBKG PCR 15
119 Isolated Aniridia / Wilms tumoraniridiagenital anomaliesretardation (WAGR) syndrome Opthalmic PAX6, WT Cyto MicroArray 15
120 Jacobsen syndrome Neuro Development / Dysmorphology ARHGA, ETS1, FLI Cyto MicroArray 15
121 Joubert Syndrome (types 1 to 34) Gene Panel Neuro Development AHI1, 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, ZNF423 NGS 15
122 Junctional epidermolysis bullosa Dermatology LAMB3, COL17A1,LAMC2and LAM  A3 NGS 15
123 Juvenile hemochromatosis Gene Panel Gastro Intestinal HJV(HFE2), HAMP (HEPC) NGS 15
124 Juvenile polyposis syndrome Gene Panel Gastro Intestinal BMPR1A,SMAD4 NGS 15
125 Kabuki syndrome Multi Organ System / Dysmorphology KDM6A NGS 15
126 Kallman Syndrome Neuro Sensory ANOS1,CHD7,FGF8,FGFR1,PROK2, P ROKR2 NGS 15
127 KANSL1related intellectual disability syndrome / 17q21.31  Micro Deletion Syndrome Mental retardation Cyto MicroArray 15
128 KBG syndrome Growth and Development / Dysmorphology ANKRD11 Cyto MicroArray 15
129 Kindler syndrome Dermatology FERMT1 NGS 15
130 Kleefstra syndrome / Microdeletion of 9q34.3 Multi Organ System / Dysmorphology EHMT1 Cyto MicroArray 15
131 KMT2Brelated dystonia (DYTKMT2B) Neuro Development KMT2B Cyto MicroArray 15
132 L1 syndrome Neuro Development L1CAM NGS 15
133 LAMA2related muscular dystrophy Muscular LAMA2 Cyto MicroArray 15
134 Langer Giedion Syndrome (Trichorhinophalangeal syndrome II) Growth and Development TRPS1, RAD21 and EXT1 Cyto MicroArray 15
135 Lateral meningocele syndrome Neuro Development NOTCH3 NGS 15
136 Leber hereditary optic neuropathy Opthalmic MTND1,MTND2,MTND4,MTND4L, MTND5 and MTND6 NGS 15
137 Legius syndrome Neuro Development SPRED1 NGS 15
139 Lenz microphthalmia syndrome Opthalmic / Dysmorphology BCOR or NAA10 PCR 15
140 LeriWeill dyschondrosteosis / Short stature caused by SHOX deficiency Skeletal SHOX Cyto MicroArray 15
141 LeschNyhan Syndrome Neuro Development HPRT1 NGS 15
143 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Neuro Development DARS2 NGS 15
144 LiFraumeni syndrome associated with premenopausal breast cancer (BRCA negative) Onco Predisposition Breast TP53 NGS 15
145 LMNArelated dilated cardiomyopathy Cardiac LMNA NGS 15
146 LoeysDietz Syndrome / Marfan Syndrome Type 2 Gene Panel Multi Organ System SMAD2,SMAD3,TGFB2,TGFB3,TGF BR1, or TGFBR2 NGS 15
147 Long QT syndrome Gene Panel Cardiac AKAP9,ANK2,CACNA1C,CALM1, CAV3,KCNE1,KCNE2,KCNH2,KCNJ5, KCNQ1,SCN4B,SCN5Aand SNTA1 NGS 15
148 Lowe Syndrome Opthalmic / Growth and development / Renal OCRL NGS 15
149 Lujan syndrome / Ohdo syndrome / FG syndrome type 1 Dysmorphology / Intellectual Disability MED12 NGS 15
150 Lymphedemadistichiasis syndrome Lymphatic FOXC2 Sanger 15
151 Lymphoproliferative disease X linked Immuno Deficiency / Gastro Intestinal SH2D1A, XIAP NGS 15
152 Lynch syndrome with associated Ovarian cancer risk Onco Predisposition Ovary MLH1,MSH2,MSH6 and PMS2 NGS 15
153 Lysinuric protein intolerance Metabolic SLC7A7 NGS 15
154 lysosomal acid lipase (LAL) deficiency / Wolman disease / cholesterol ester storage disease Metabolic LIPA NGS 15
155 Majeed syndrome Skeletal LPIN2 NGS 15
156 Mandibulofacial dysostosis with microcephaly (MFDM) Dysmorphology / Multi Organ System EFTUD2 NGS 15
157 Manitoba oculotrichoanal (MOTA) syndrome Dysmorphology /Growth and Development FREM1 NGS 15
158 Maple syrup urine disease (MSUD) Type 1A, 1B and 2 Gene Panel Metabolic BCKDHA, BCKDHB, DBT NGS 15
159 Marfan syndrome Skeletal / Dysmorphology / Multi Organ System FBN1 NGS 15
160 MarinescoSjögren syndrome Multi Organ System SIL1 NGS 15
161 MBD5 Haploinsufficiency / 2q23.1 Microdeletion Syndrome Neuro Development MBD5 Cyto MicroArray 15
162 McKusickKaufman syndrome Reproductive Development MKKS Sanger 15
163 MECP2Duplication Syndrome Neuro Development MECP2 Cyto MicroArray 15
164 Mediumchain acylcoenzyme A dehydrogenase (MCAD) Metabolic ACADM NGS 15
165 MEGDEL syndrome Neuro Sensory / Neuro Development SERAC1 NGS 15
166 MELAS (mitochondrialencephalomyopathy,lacticacidosis, andstrokelike episodes) Neuro Development MTTC,MTTK,MTTV,MTTF,MTTQ,MTTS1, MTTS2and MTTW, MTCO1, MTCO2, MTCO3,MTCYB,MTND1,MTND3and MTND6 15
167 MERRF (myoclonicepilepsy withraggedredfibers) Multi Organ System / Neuro Development MTTK,MTTF,MTTL1,MTTI and MTTP 15
168 Methylmalonic acidemia Metabolic MUT, MMAA,MMAB,MCEE and MMADHC NGS 15
169 Microcephalycapillary malformation Growth and Development / Dysmorphology STAMBP NGS 15
170 Microphthalmia with linear skin defects (MLS) syndrome / Monosomy of Xp22 region Growth and Development / Dysmorphology HCCS Cyto MicroArray 15
171 Microphthalmia,anophthalmiaand coloboma spectrum of disorders (Micro deletion duplication syndromes Wolf Hirschhorn, 13q, 14q22.1q23.1, 18q, 3q26, 10q+, 4p+) Cyto MicroArray 15
172 MIDAS syndrome / Microphthalmia with linear skin defects syndrome Multi Organ System / Dysmorphology HCCS Cyto MicroArray 15
173 Miller Dieker Syndrome Neuro Development / Dysmorphology PAFAH1B1, YWHAE Cyto MicroArray 15
174 Mitochondrial Disorders Deletion syndromes Multi Organ System Mt genes MS MLPA 15
175 MowatWilson Syndrome Multi Organ System ZEB2 Cyto MicroArray 15
176 MPPH syndrome Gene Panel Neuro Development AKT3,PIK3R2 NGS 15
177 MPV17related encephalohepatopathy, including Navajo neurohepatopathy Neuro Development MPV17 NGS 15
178 MTHFR related Thrombophilia Blood MTHFR PCR 15
179 Mucolipidosis Metabolic / Growth and Development / Dysmorphology GNPTAB, MCOLN1 NGS 15
180 Mucopolysaccharidosis (Type 1 (Hurler syndrome), 2 (Hunter syndrome),3 (Sanfilippo Syndrome), 4 (Morquio syndrome), 5, 6, 7) Metabolic IDUA, IDS, GALNS, GNS, HGSNAT, NAGLU, SGSH, GLB1, ARSB, GUSB, GNPTAB, GNPTG NGS 15
181 Muenke syndrome Skeletal FGFR3 NGS 15
182 Multiple endocrine neoplasia type 1 (MEN1) syndrome Onco Predisposition Endocrine MEN1 NGS 15
183 Multiple endocrine neoplasia type 2 (MEN 2) Onco Predisposition Endocrine RET NGS 15
184 MUTYHassociated polyposis Onco Predisposition Colon MUTYH NGS 15
185 Myotonic dystrophy type 1 Muscular DMPK PCR 15
186 Myotonic dystrophy type 2 Muscular CNBP PCR 15
187 Nailpatella syndrome / Fong Disease Skeletal LMX1B NGS 15
188 NanceHoran syndrome Multi Organ System NHS Cyto MicroArray 15
189 Nemaline myopathy Neuro Muscular NEB,ACTA1, TPM2, TPM3, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41 NGS 15
190 Neonatal Diabets Panel (Maturityonset diabetes of the young (MODY) / Permanent neonatal diabet es mellitus ) Endocrine ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1 NGS 15
191 PANK2,PLA2G6,C19orf12,FA2H,ATP 13A2,WDR45,COASY,FTL,CP, andDCAF17. NGS 15
192 Neurofibromatosis Type 1 and 2 Neuro Development NF1, NF2 NGS 15
193 Nevoid Basal Cell Carcinoma Syndrome Onco Predisposition Ovary skeletal / Dysmorphology PTCH1, SUFU NGS 15
194 Nicolaides Baraitser Syndrome Growth and Development / Dysmorphology SMARCA2 NGS 15
195 Niemann Pick Disease Type A / Type B Neuro Degenerative SMPD1 Sanger 15
196 Niemann Pick Disease Type A, B, C Gene Panel NPC1, NPC2, SMPD1 NGS 15
197 Nijmegen breakage syndrome Growth and Development / Immuno deficiency / Onco Predispositi on Blood NBN NGS 15
198 Nonsyndromic 46,XX testicular disorders of sex development Reproductive Development SRY, SOX9, SOX3 Cyto MicroArray 15
199 Noonan syndrome Gene Panel Reproductive Development / Dysmorphology PTPN11, SOS1, RAF1, RITI, KRAS, NIR AS, BRAF, MAP2K1 NGS 15
200 Ocular albinism X linked Opthalmic GPR143 NGS 15
201 Oculocutaneous albinism type 1,2,3,4,5,6,7 Gene Panel 4 Dermatology TYR, OCA2, TYRP1, SLC45A2, SLC24A 5 NGS 15
202 Oculocutaneous albinism type 1A, 1B – Full Gene TRY sequencing Dermatology TYR Sanger 15
203 Optic atrophy type 1 / Kjer type optic atrophy Opthalmic OPA1 NGS 15
204 Oralfacialdigital syndrome type I Fetal growth and development OFD1 NGS 15
205 Ornithine Transcarbamylase (OTC) Deficiency Metabolic OTC NGS 15
206 Osteogenesis imperfecta (COL1A1 and COL1A2 related) Skeletal COL1A1, COL1A2 NGS 15
207 OTOFrelated deafness (Prelingual nonsyndromic hearing loss, Temperaturesensitive nonsyndromic auditory neuropathy ) ENT OTOF NGS 15
208 Otopalatodigital Spectrum Disorders (OSD 1, OSD 2, Frontometaphyseal dysplasia, MelnickNeedles syndrome, Terminal osseous dysplasia with pigmentary skin defects) Skeletal / Growth and Dvelopment / Dysmorphology FLNA NGS 15
209 Pachyonychia congenita Skeletal / Dermatology KRT6A, KRT6C NGS 15
210 PallisterHall syndrome Growth and Development / Neonatal GLI3 NGS 15
211 PARK2 Micro deletion Syndrome Neuro Development / Dysmorphology PARK2 Cyto MicroArray 15
212 Parkes Weber syndrome Dysmorphology / Growth and Development RASA1 NGS 15
213 Pelizaeus Merzbacher Disease / Spastic paraplegia 2 Neuro Degenerative PLP1 Cyto MicroArray 15
214 Pelizaeus Merzbacher Like Disease 1 Neuro Degenerative GJC2 Sanger 15
215 Pendred syndrome / Nonsyndromic enlarged vestibular aqueduct ENT SLC26A4,FOXI1,KCNJ10 NGS 15
216 Perrault syndrome ENT / Reproductive development HARS2, HSD17B4, LARS2,CLPP NGS 15
217 Peters plus syndrome Developmental delay / intellectual disability B3GLCT Sanger 15
218 Peutz Jeghers syndrome Gastro Intestinal / Onco Predisposition Uterus, testicular, Intestin al STK11 NGS 15
219 PhelanMcDermid syndrome/22q13.3 Micro deletion syndrome Growth and Development SHANK3 Cyto MicroArray 15
220 Phenylalanine hydroxylase Metabolic PAH NGS 15
221 PIK3CAassociated Segmental Overgrowth (CLOVES syndrome, Megalencephalycapillary malformat ion syndrome , Fibroadipose hyperplasia, Hemimegalencephaly) Dysmorphology / Neuro Development PIK3CA NGS 15
222 PittHopkins Syndrome Growth and Development TCF4 Cyto MicroArray 15
223 Poikiloderma with neutropenia Blood USB1 NGS 15
224 Polycystic Kidney Disease (ADPKD, ARPKD) Renal PKD1, PKD2, PKHD1 NGS 15
225 Pompe disease Multi Organ System GAA NGS 15
226 Porencephaly Autosomal Domiant Neuro Development COL4A1 NGS 15
227 PotockiLupski syndrome / 17p11.2 Micro Deletion Syndrome Cognitive and Behavioural RAI1, FLCN Cyto MicroArray 15
228 Praderwilli Syndrome Developmental Delay and Mental retardation UBE3A Cyto MicroArray 15
229 Praderwilli Syndrome (Deletions, UPD and Imprinting methylation) Developmental Delay and Mental retardation UBE3A MS MLPA 15
230 Primary Congenital Glaucoma Opthalmic CYP1B1, LTBP2, TEK, NGS 15
231 Primary Familial brain calcification Neuro Development PDGFB,PDGFRB,SLC20A2 NGS 15
232 Primary hyperoxaluria Type 1, 2, 3Gene Panel Renal AGXT, GRHPR, HOGA1 NGS 15
233 Propionic acidemia Metabolic PCCA, PCCB NGS 15
234 Prothrombin related Thrombophilia Blood F2 PCR 15
235 Pseudoachondroplasia Skeletal COMP NGS 15
236 Pseudohypoaldosteronism Renal NR3C2, SCNN1A, SCNN1B, SCNN1G, CUL3,KLHL3,WNK1,WNK4, KLHL3 NGS 15
237 PURAsyndrome / 5q31.3 Micro deletion syndrome Neuro Development PURA Cyto MicroArray 15
238 Recurrent 1q21.1 Microdeletion Neuro Development / Dysmorphology ~1.35Mb deletion Cyto MicroArray 15
239 Retinitis Pigmentosa (AD, AR, Xlinked, Digenic) Opthalmic 24 AD genes, 51 AR genes, 3 X linked, 2 Digenic NGS 15
240 Retinoblastoma Opthalmic RB1 NGS 15
241 Rett syndrome / PPMX syndrome / MECP2related severe neonatal encephalopathy Neuro Development MECP2 Sanger 15
242 RhD prenatal diagmosis Reproductive Development RhD RT QPCR 15
243 Rhizomelic Chondrodysplasia Punctata Type 1 Skeletal PEX7 NGS 15
244 Roberts Syndrome Fetal growth and development ESCO2 NGS 15
245 Robinow Syndrome Dysmorphology / Growth and Development ROR2 NGS 15
246 Rothmund Thomson Syndrome Dysmorphology / Growth and Development RECQL4 NGS 15
247 Rubinstein Taybi Syndrome Dysmorphology / Growth and Development CREBBP, EP300 Cyto MicroArray 15
248 Russel Silver Syndrome Growth and Development CDKN1C MS MLPA 15
249 Saethre Chotzen Syndrome Dysmorphology / Growth and Development TWIST1 Cyto MicroArray 15
250 Schimke Immunoosseous Dysplasia Immuno Deficiency / Multi Organ System SMARCAL1 NGS 15
251 Seckel Syndrome / Autosomal Recessive Microcephaly Gene Panel Neuro Development MCPH1,WDR62, CDK5RAP2, ASPM, STIL, CEP135, ATR, NIN, RBBP8, CEP152, CENPJ, CEP63 NGS 15
252 SHORT Syndrome Skeletal / Dysmorphology PIK3R1 NGS 15
253 Short-chain-Acyl-CoA Dehydrogenase (SCAD) deficiency Metabolic ACADS NGS 15
254 Shprintzen-Goldberg syndrome Multi Organ System SKI NGS 15
255 Skeletal Dysplasia Gene Panel (FGFR3 related disorders) Skeletal FGFR3 Sanger 15
256 Smith-Lemli-Opitz Syndrome Dysmorphology / Growth and Development DHCR7 NGS 15
257 Smith-Magenis Syndrome Dysmorphology / Growth and Development RAI1 Cyto MicroArray 15
258 Snyder-Robinson Syndrome Dysmorphology / Growth and Development SMS NGS 15
259 Sotos Syndrome Dysmorphology / Growth and Development NSD1 NGS 15
260 Spinal and bulbar muscular atrophy Muscular AR NGS 15
261 Spinal muscular atrophy (SMA) Muscular SMN1, SMN2, NAIP PCR 15
262 Spinal muscular atrophy X linked infantile Neuro Degenerative UBA1 NGS 15
263 Spinocerebellar Ataxia (Infantile-Onset) Neuro Degenerative TWNK Sanger 15
264 Spinocerebellar ataxia type 1 (SCA1) Neuro Degenerative ATXN1 PCR 15
265 Spinocerebellar ataxia type 2 (SCA2) Neuro Degenerative ATXN2 PCR 15
266 Spinocerebellar ataxia type 3 (SCA3) Neuro Degenerative ATXN3 PCR 15
267 Split Hand Foot malformation 1 (SHFM1) Skeletal / Dysmorphology DSS1, DLX5 , DLX6 Cyto MicroArray 15
268 Stickler syndrome Multi Organ System COL2A1,COL11A1, COL11A2, COL9A1 ,COL9A2, COL9A3 NGS 15
269 Systemic primary carnitine deficiency Metabolic SLC22A5 NGS 15
270 Thanatropic Dysplasia Skeletal FGFR3 Sanger 15
271 Thrombophilia Gene Panel Blood F5, MTHFR, F2 PCR 15
272 Timothy syndrome Neuro Development / Dysmorphology CACNA1C NGS 15
273 Townes-Brocks syndrome Multi Organ System / Dysmorphology SALL1 NGS 15
274 Treacher Collins syndrome Skeletal / Neuro sensory TCOF1, POLR1D, POLR1C NGS 15
275 Tuberous sclerosis complex Dermatology TSC1, TSC2 NGS 15
276 Tubulinopathies Neuro Development TUBA1A,TUBB2A, TUBB2B,TUBB3, TUBB[TUBB5], TUBG1, TUBA8, TUBG1 NGS 15
277 Tyrosinemia type I Metabolic FAH NGS 15
278 Unverricht-Lundborg Disease Neuro Degenerative CSTB PCR 15
279 Usher syndrome type I Neuro Sensory / Opthamic MYO7A, USH1C, CDH23, PCDH15, US H1G, CIB2, ADGRV1, WHRN (DFNB31)and USH2A NGS 15
280 Van der Woude syndrome / Popliteal pterygium syndrome Neuro Development / Dysmorphology VWS, PPS Cyto MicroArray 15
281 Variegate Porphyria Dermatology PPOX NGS 15
282 Very long-chain-Acyl-CoA dehydrogenase Metabolic ACADVL NGS 15
283 Von Hippel Lindau (VHL) syndrome Neuro Endocrine VHL Cyto MicroArray 15
284 Waardenburg syndrome type I ENT / Dermatology PAX3 NGS 15
285 Warburg micro syndrome Multi Organ System RAB3GAP1,RAB3GAP2,RAB18, TBC1 D20 NGS 15
286 Weill-Marchesani syndrome Opthalmic / Dysmorphology ADAMTS10, FBN1, LTBP2 NGS 15
287 Werner syndrome Onco Predisposition / Multi organ WRN NGS 15
288 Williams Syndrome / 7q11.23 deletion syndrome / Williams-Beuren syndrome Cardiac WBSCR critical region Cyto MicroArray 15
289 Wilson disease Gastro Intestinal ATP7B NGS 15
290 Wolf Hirschhorn Syndrome / 4p16.3 deletion syndrome WHSCR critical region Cyto MicroArray 15
291 Woodhouse-Sakati Syndrome Reproductive Development / Dermatology / Endocrine DCAF17 NGS 15
292 Xeroderma Pigmentosum Dermatology DDB2,ERCC1,ERCC2,ERCC3,ERCC4, ERCC5,POLH,XPA, orXPC. NGS 15
293 Xp21 deletion (DMD like) Cyto MicroArray 15
294 Xq28 Duplication Syndrome Cognitive and Behavioural int22h1/int22h2 Cyto MicroArray 15
295 Y Micro Deletions Reproductive Development / Male Infertility AZF PCR 15
296 Zellweger spectrum disorder (Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Re fsum Syndrome) Neuro Degenerative PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 NGS 15