Molecular genetics

Molecular genetics

S.No Disorder Gene Method TAT
1 Achondroplasia FGFR3 CMGS 2-3 wks
2 Adrenoleukodystrophy ABCD1 FGS 2-3 wks
3 Alagille Syndrome JAG1 FGS 2-3 wks
4 Albinism TYR CMGS 2-3 wks
5 Alopecia Universalis HR FGS 2-3 wks
6 Alpha Thalassemia HBA PCR 2-3 wks
7 Angelman Syndrome UBE3A FGS 2-3 wks
8 Apert Syndrome FGFR2 CMGS 2-3 wks
9 Anophthalmia VSX2/RAX FGS 2-3 wks
10 Ataxia Telengectasia ATM FGS 2-3 wks
11 Bartter Syndrome Type 1 SLC12A1 FGS 2-3 wks
12 Berardinelli-Seip Congenital Lipodystrophy AGPAT2BSCL2 FGS 2-3 wks
13 Bilateral Frontoparietal Polymicrogyria (BFPP) GPR56 FGS 2-3 wks
14 Biotinidase Deficiency BTD FGS 2-3 wks
15 BRCA - Breast Cancer Predisposition test BRCA FGS 2-3 wks
16 Camurati – Engelmann’s Disease TGFB1 FGS 2-3 wks
17 Camurati – Engelmann’s Disease PAX6 FGS 2-3 wks
18 Cerebral Cavenous Malformation Common mutation CCM1 CMGS 2-3 wks
19 Cerebral Cavenous Malformation Full gene CCM1 / CCM2 / CCM3 FGS 2-3 wks
20 Charcot marie tooth disease PMP22 CMGS 2-3 wks
21 Chediak Higashi Syndrome (CHS) LYST FGS 2-3 wks
22 Colorectal cancer KRAS, BRAF CMGS 2-3 wks
23 Combined Immunodeficiency Syndrome IL2RG FGS 2-3 wks
24 Congenital Adrenal Hyperplasian (CAH) CYP11B1 / CYP21A2 FGS 2-3 wks
25 Congenital Erthyropoietic Poryphria UROS FGS 2-3 wks
26 Congenital Muscular Dystrophy COL6A3 CMGS 2-3 wks
27 Congenital Nephrotic Syndrome NPHS1 / NPHS2 FGS 2-3 wks
28 Congenital Short Bowel Syndrome CLMP FGS 2-3 wks
29 Cornelia De Lange Syndrome NIPBL FGS 2-3 wks
30 Cornelia De Lange Syndrome SMC1A FGS 2-3 wks
31 Cornelia De Lange Syndrome SMC3 FGS 2-3 wks
32 Crigler Najjar Syndrome UGT1A1 FGS 2-3 wks
33 Crouzon Syndrome FGFR3 CMGS 2-3 wks
34 Cystic Fibrosis CFTR FGS 2-3 wks
35 Cystic Megalencephaly (Indian Agarwal Mutation) MLC1 ARMS PCR 2-3 wks
36 DNA Extraction (Isolation) and storage Qiagne based methods 2-3 wks
37 Double Outlet Right Ventricle - DORV CFC1, NKX2 FGS 2-3 wks
38 Duchenne Musculer Dystrophy Dystrophy Multiplex PCR 2-3 wks
39 Duchenne Musculer Dystrophy 79 exons Dystonia Dystrophy MLPA 2-3 wks
40 Ectodermal dysplasia X linked EDA FGS 2-3 wks
41 Ellis Vab Creveld Syndrome EVC, EVC2 FGS 2-3 wks
42 Epidermolysis Bullosa KRT5, KRT14 FGS 2-3 wks
43 Epilepsy SCN1a FGS 2-3 wks
44 F10 Deficiency F10 FGS 2-3 wks
45 Factor V F5 ARMS PCR 2-3 wks
46 Familial Hyper Cholesterolemia LDLR / PCSk9 / APOB SMGS 2-3 wks
47 Familial Hemophagocytic Lymphohistiocytosis PRF1 FGS 2-3 wks
48 Familial Hemophagocytic Lymphohistiocytosis UNC13D FGS 2-3 wks
49 Familial Hyper Insulinemia ABCC8 CMGS 2-3 wks
50 Fragile X Methylation FMR PCR Methylation 2-3 wks
51 Fragile X Screening FMR PCR RA 2-3 wks
52 Friedreich Ataxia FXN PCR RA 2-3 wks
53 G6PD G6PD FGS 2-3 wks
54 G6PD Common Indian Mutations G6PD Common Mutation 2-3 wks
55 Galactokinase GALK FGS 2-3 wks
56 Galactosemia GALT CMGS 2-3 wks
57 Gaucher's Disease common mutations GBA CMGS 2-3 wks
58 Gaucher's Disease full gene sequencing GBA FGS 2-3 wks
59 Gilbert Syndrome UGT1A1*28 PCR RA 2-3 wks
60 Glazman Thrombasthenia ITGA2B, ITGB3 FGS 2-3 wks
61 Glycogen Storage Disease type 1a G6PC CMGS 2-3 wks
62 Glutaric Acidemia Type II ETFA FGS 2-3 wks
63 Glutaric Acidemia Type II ETFB FGS 2-3 wks
64 Glutaric Acidemia Type II ETFDH FGS 2-3 wks
65 Glycine Encephalopathy GLDC, AMT FGS 2-3 wks
66 Griscelli Syndrome (Type 1) MYO5A FGS 2-3 wks
67 Griscelli Syndrome (Type 2) RAB27A FGS 2-3 wks
68 Griscelli Syndrome (Type 3) MLPH FGS 2-3 wks
69 Haemophilia F8 PCR Blot 2-3 wks
70 Hartnup Disease SLC6A19 FGS 2-3 wks
71 Hearing Loss Connexin (Non Syndromic) GJB2 CMGS 2-3 wks
72 Hearing Loss Connexin 30 (Non Syndromic) GJB6 CMGS 2-3 wks
73 Hemochromatosis HFE CMGS / FGS 2-3 wks
74 Hemolytic Uremic Syndrome (HUS) CFH FGS 2-3 wks
75 Hereditary Multiple Osteochondromas EXT1, EXT2 FGS 2-3 wks
76 Hereditary Pancreatitis PRSS FGS 2-3 wks
77 Heriditory Sensory Autonomy Neuropathy Type 4 NTRK1 FGS 2-3 wks
78 Hydrotic Ectodermal dysplasia 2 GJB6 FGS 2-3 wks
79 Holt oram Syndrome TBX5 CMGS 2-3 wks
80 Hunters Syndrome (MPS Type 2) IDS PCR RA 2-3 wks
81 Huntington's Disease HD PCR RA 2-3 wks
82 Hutchinson-Gilford progeria syndrome LMNA SEQUENCING 2-3 wks
83 Hyalinosis ANTXR2 FGS 2-3 wks
84 Hydrocephaly X-linked L1CAM FGS 2-3 wks
85 Hypochondroplasia FGFR3 CMGS 2-3 wks
86 Hypertrophic Cardiac Myopathy MYH7 FGS 2-3 wks
87 Hypohidrotic Ectodermal Dysplasia EDA / EDAR / EDARADD FGS 2-3 wks
88 Icthyosis X linked deletion STS FGS 2-3 wks
89 Incontinentia pigmenti NEMO PCR 2-3 wks
90 Job Syndrome STAT3 FGS 2-3 wks
91 Junctional Epidermolysis Bullosa LAMB3 FGS 2-3 wks
92 Kabuki Syndrome KMT2D / KMD6A FGS 2-3 wks
93 Klippel-Feil syndrome 1,2,3 GDF6, MEOX1, GDF3 SEQUENCING 2-3 wks
94 Krabbe disease GALC FGS 2-3 wks
95 Krabbe disease SCNN1B, SCNN1G FGS 2-3 wks
96 Lamellar Icthyosis TGM1 FGS 2-3 wks
97 Leigh Syndrome SURF1 CMGS 2-3 wks
98 Limb Girdle Muscular Dystrophy/ Hutchinson-Gilford progeria syndrome LMNA FGS 2-3 wks
99 Lissencephaly LIS1 / PAFAH1B1 MPLA/ FISH 2-3 wks
100 Maple Syrup Urine disease (MSUD) DBT FGS 2-3 wks
101 Lung Cancer ALK FISH ALK FISH 2-3 wks
102 Lung Cancer EGFR KRAS Panel EGFR, KRAS SEGS 2-3 wks
103 Lynch Syndrome MLH1 FGS 2-3 wks
104 Lynch Syndrome MSH2 FGS 2-3 wks
105 Lynch Syndrome MSH6 FGS 2-3 wks
106 Lynch Syndrome PMS2 FGS 2-3 wks
107 Lynch Syndrome EPCAM FGS 2-3 wks
108 Marfan Syndrome FBN1 FGS 2-3 wks
109 Meckel Gruber Syndrome Type 1 MKS1 FGS 2-3 wks
110 Meckel Gruber Syndrome Type 3 TMEM67 FGS 2-3 wks
111 Medium Chain Acyl CoA dehyd (MCAD) ACADM CMGS 2-3 wks
112 Megacystis Microcolon Intestinal Hypoperistalasis Syndrome ACTG2 FGS 2-3 wks
113 Megalencephalic Leukoencephalopathy MLC1 FGS 2-3 wks
114 Megaloblastic Anemia SLC19A2 FGS 2-3 wks
115 Merosin Deficiency Congenital Muscular Dystrophy LAMA2 CMGS 2-3 wks
116 Menkes Disease ATP7A FGS 2-3 wks
117 Metachromatic Leukodystrophy ARSA FGS 2-3 wks
118 Methemoglobinemia dominant HBA/HBB FGS 2-3 wks
119 Methemoglobinemia recessive CYB53R FGS 2-3 wks
120 Methemoglobinemia recessive Type IV CYB5A FGS 2-3 wks
121 Methyl Malonic Acidemia MMA FGS 2-3 wks
122 Micro Array Genome Micro Array 2-3 wks
123 Mucopolysaccharidosis Type I IDUA FGS / CMGS 2-3 wks
124 Mucopolysaccharidosis Type IV GALNS FGS 2-3 wks
125 Mucopolysaccharidosis Type IV GLB1 FGS 2-3 wks
126 Multiple Endocrime Neoplasia2 RET FGS 2-3 wks
127 Mutiple Endocrine Neoplasia Type 1 MEN1 CMGS 2-3 wks
128 Myotonic dystrophy Type 1 DMPK RA PCR / CMGS 2-3 wks
129 Myotonic dystrophy Type 2 CNBP CMGS 2-3 wks
130 Neimen pick disease SMPD1 FGS 2-3 wks
131 Neimen pick disease NPC1 FGS 2-3 wks
132 Neimen pick disease NPC2 FGS 2-3 wks
133 Neonatal diabetis mellitus INS CMGS 2-3 wks
134 Neonatal Hyperglycemia KCNJ11, ABCC8, INS FGS 2-3 wks
135 Neuro Endocrine Carcinoma of Stomach and Liver UGT1A1 FGS 2-3 wks
136 Neuro Endocrine Carcinoma of Stomach and Liver UGT1A1 CMGS 2-3 wks
137 Neuroblastoma ALK FGS / CMGS 2-3 wks
138 Neurofibromatosis NF1 FGS 2-3 wks
139 Neurofibromatosis NF2 FGS 2-3 wks
140 Non Bullous Icthyosis ALOX12B FGS 2-3 wks
141 Non Bullous Icthyosis TGM1 FGS 2-3 wks
142 Noonan Syndrome PTPN11 FGS 2-3 wks
143 Obesity lefptin deficiency related LEP FGS 2-3 wks
144 Optic Atrophy Type 1 OPA1 FGS 2-3 wks
145 Osteogenesis Imperfecta COL1A1, COL1A2 FGS 2-3 wks
146 Osteopetrosis TC1RG1 FGS 2-3 wks
147 Osteopetrosis CLCN7 FGS 2-3 wks
148 Osteopetrosis TCIRG1 FGS 2-3 wks
149 Osteopetrosis IKBKG FGS 2-3 wks
150 Papillary Cystadenoma of Tongue VHL, VEGF 2-3 wks
151 Pelizaeus-Merzbacher disease PLP1 FGS / PCR /FISH 2-3 wks
152 Permanent Neonatal diabetes mellitus KCNJ11 FGS 2-3 wks
153 Permanent Neonatal diabetes mellitus ABCC8 FGS 2-3 wks
154 Permanent Neonatal diabetes mellitus INS FGS 2-3 wks
155 Permanent Neonatal diabetes mellitus SPINK1 FGS 2-3 wks
156 Peutz Jeghers Syndrome STK11 FGS 2-3 wks
157 Phenylketonuria PAH FGS 2-3 wks
158 Pierre Robin Sequence SOX9 FGS 2-3 wks
159 Plakophilin PKP1 FGS 2-3 wks
160 Pleomorphic Adenoma benign tumor PLAG1 FGS 2-3 wks
161 Polycystic Kidney Disease Dominant PKD1 / PKD2 FGS 2-3 wks
162 Polycystic Kidney Disease Recessive PKHD1 FGS 2-3 wks
163 Primary congenital glaucoma CYP1B1 FGS 2-3 wks
164 Primary Congenital Glaucoma MYOC FGS 2-3 wks
165 Primary Hyperoxaluria Type I AGXT FGS / CMGS 2-3 wks
166 Primary Hyperoxaluria Type II GRHPR / KIT / PDGFRA FGS 2-3 wks
167 Primary Microcephaly ASPM FGS 2-3 wks
168 Progressive Myoclonic Epilepsy (Unverricht-Lundborg) CSTB FGS / PCR RA 2-3 wks
169 Prothrombin Gene Ploymorphism Prothrombin CMGS 2-3 wks
170 Pulmonary Arterial Hypertension BMPR2 FGS 2-3 wks
171 Pyruvate dehydrogenase PDHP / DLAT FGS 2-3 wks
172 Retinitis Pigmentosa RPE65, OPTC SEQUENCING 2-3 wks
173 Retinitis Pigmentosa (common Recessive gene) RPE65 / USH2A FGS 2-3 wks
174 Retinoblastoma RB1 CMGS 2-3 wks
175 Retinitis Pigmentosa Dominant RHO FGS 2-3 wks
176 Rett Syndrome MECP2 FGS 2-3 wks
177 Sandhoff Disease HEXB FGS 2-3 wks
178 Schwartz Jampel HSPG2 FGS 2-3 wks
179 Seckle Syndrome Type 1 ATR FGS / CMGS 2-3 wks
180 Sickle Cell Anemia HBB PCR AMRS 2-3 wks
181 Skeletal Dysplasia Genetic Panel FGFR3 CMGS 2-3 wks
182 Spinal Muscular Atrophy SMN1 FGS 2-3 wks
183 Spinal Muscular Atrophy SMN2 FGS 2-3 wks
184 Spino cerebellar Ataxia ATXN2 RA-PCR 2-3 wks
185 SRY gene analysis SRY PCR 2-3 wks
186 Stargart Disease Domiant Form ELOVL4 FGS 2-3 wks
187 Stargart Disease Recessive Form ABCA4 FGS 2-3 wks
188 Static Encephalopathy WDR45 FGS 2-3 wks
189 Beta Thalassemia HBB PCR ARMS 2-3 wks
190 Thanatropic Dysplasia Gene Sequencing FGFR3 Common Mutation 2-3 wks
191 Static Encephalopathy WDR45 FGS 2-3 wks
192 Tay Sach's Disease HEXA Targetted mutation detection 2-3 wks
193 Thrombasthenia ITGA2B, ITGA3 FGS 2-3 wks
194 Thrombophila Panel F5 / MTHFR / PTH ARMS PCR 2-3 wks
195 Tuberous Sclerosis TSC1 / TSC2 FGS 2-3 wks
196 Tyrosinemia Type 1 FAH FGS 2-3 wks
197 Ulnar Mammary Syndrome TBX3 FGS 2-3 wks
198 Vitiligo NLRP1 and PTPN22 ARMS PCR 2-3 wks
199 Waardenburg Shah Syndrome Type I EDN3 / SOX10 / EDNRB FGS 2-3 wks
200 Waardenburg Syndrome PAX3 FGS 2-3 wks
201 Wilson Disease ATP7B FGS 2-3 wks
202 Wiskott Aldrichs Syndrome WAS FGS 2-3 wks
203 X Linked Ichtyosis STS FGS 2-3 wks
204 X linked west syndrome ARX, CDKL5 FGS 2-3 wks
205 Xeroderma Pigmentosum XPA FGS 2-3 wks
206 Xeroderma Pigmentosum ERCC2 FGS 2-3 wks
207 Xeroderma Pigmentosum ERCC3 FGS 2-3 wks
208 Xeroderma Pigmentosum POLH FGS 2-3 wks
209 Xeroderma Pigmentosum XPC FGS 2-3 wks
210 X-linked Agammaglobulinemia BTK FGS 2-3 wks