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 |
37 | Brugada syndrome | Cardiac | ABCC9,CACNA1C,CACNA2D1,CAC NB2,GPD1L,HCN4,KCND2,KCND3,KCNE3, KCNH2,PKP2,RANGRF,SCN1B,SCN2B, SCN3B,SCN5A, SEMA3A and TRPM4 | NGS | 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 |
83 | Fanconi Anemia Gene Panel | Blood | BRCA2, BRIP1, FANCA, FANCB, FAN CC, FANCD2, FANCE, FANCF, FANCG, FANCI, ERCC4, FANCL, FANCM, PALB2, RAD51,RAD51C, SLX4, XRCC2 | 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 |
138 | Leigh 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, AIFM1 | 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 |
142 | Leukodystrophies 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, ABCD1 | 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 |