Institute of Human Genetics

  Publications | Conferences | Careers | Contact Us
 
News & Updates    
Molecular Genetics

Indications

  • Hemoglobinopathies including thalassemias, sickle cell anemia, hemoglobin E disease
  • Musculopathies including Duchenne and Becker Muscular Dystrophy, Spinal Muscular Atrophy, Myotonic dystrophy etc.
  • Neurodegenerative diseases like Spinocerebellar Ataxias, Huntington’s disease
  • Mental retardation syndromes like Fragile-X Syndrome
  • Bleeding disorders like Hemophilia A and B
  • Non-Syndromic Hearing Loss (NSHL)
  • Mitochondrial disorders such LHON, Leigh Syndrome, MELAS etc.
  • Susceptibility screening for MTHFR, Factor V, Prothrombin, HFE

Investigation List


Sr.No.

Investigation Name

Sample Type

Sample Collection

Turn Around Time in days

1

Achondroplasia: FGFR3 gene (G1138A & G1138C mutation)

Peripheral Blood

EDTA Vacutte (5 ml)

15

2

Achondroplasia: FGFR3 gene (G1138A & G1138C mutation) Prenatal diagnosis

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: Sterile container (20 ml)
CV: Sterile container with transport media (30 mg)

21

3

Adiponectin polymorphism in diabetic patients  G276T-11377(C>G) mutation

Peripheral Blood

EDTA Vacutte (5 ml)

15

4

PPARg gene mutation in diabetic patients (Pro12Ala)

Peripheral Blood

EDTA Vacutte (5 ml)

15

5

Alexander Disease: Alexandra Disease Sequence Analysis (8 exon study)

Peripheral Blood

EDTA Vacutte (5 ml)

60

6

Anhydrotic Ectodermal Dysplasia : Anhydrotic Ectodermal Dysplasia(EDA): Gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

7

Hyperlipidemia : Apolipoprotein E (ApoE) genotyping in hyperlipidemia

Peripheral Blood

EDTA Vacutte (5 ml)

15

8

Batten Disease: CLN2 gene study IVS 5-1 (G>C) & C622 (C>T) mutations

Peripheral Blood

EDTA Vacutte (5 ml)

15

9

Batten Disease CLN3 gene 1.02 kb deletion

Peripheral Blood

EDTA Vacutte (5 ml)

15

10

Batten Disease type-1 gene sequencing : CLN1

Peripheral Blood

EDTA Vacutte (5 ml)

60

11

Batten Disease type-1 gene sequencing : CLN2

Peripheral Blood

EDTA Vacutte (5 ml)

60

12

Chronic Myelogenous Leukemia,(CML), B-lymphoblastic leukemia,(B-ALL) diagnosis : BCR-ABL by Q-PCR

Peripheral Blood

EDTA Vacutte (5 ml)

15

13

Breast Cancer : BRCA1 and BRCA2 mutations

Peripheral Blood

EDTA Vacutte (5 ml)

60

15

β-Thalassemia: 5 most common mutation from blood (619bp deletion, IVS1,5(G-C), IVS1,1 (G-T), Fs 8/9, Fs 41/42)

Peripheral Blood

EDTA Vacutte (5 ml)

15

15

β-Thalassemia: 18 common mutation from blood

Peripheral Blood

EDTA Vacutte (5 ml)

15

16

β-Thalassemia: Single specific mutation

Peripheral Blood

EDTA Vacutte (5 ml)

7

17

β-Thalassemia: Detection of novel mutation (by sequencing)

Peripheral Blood

EDTA Vacutte (5 ml)

30

18

β-Thalassemia: Parents only

Peripheral Blood

EDTA Vacutte (5 ml)

15

19

β-Thalassemia: Parents and Prenatal tissue /Prenatal Diagnosis  for Unknown mutations (18 mutations)

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA Vacutte (5ml)

21-30

20

β-Thalassemia: Parents + child

Peripheral Blood

EDTA Vacutte (5 ml)

15

21

β-Thalassemia: Prenatal Diagnosis  for known mutations

Peripheral Blood

EDTA Vacutte (5 ml)

15-30

22

Congenital Adrenal Hyperplasia: CAH gene Mutation: Gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

23

Congenital Adrenal Hyperplasia: CAH: deletion / duplication study by dosage analysis

Peripheral Blood

EDTA Vacutte (5 ml)

30

24

Canavan Disease: ASPA gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

25

Canavan Disease: ASPA gene mutation Prenatal Diagnosis

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA vaccute (5 ml)

30

26

Charcot Marie Tooth Disease: PMP22 gene deletion/duplication study

Peripheral Blood

EDTA Vacutte (5 ml)

15

27

Chronic Pancreatitis: (N34S SPINK 1 mutation)

Peripheral Blood

EDTA Vacutte (5 ml)

7

30

Carnitine palmitoyltransferase I (CPT I) deficiency: CPT1A gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

29

Pharmacogenomics Tacrolimus: CyP3A5 gene (A3986G mutation):Tacrolimus Drug metabolism

Peripheral Blood

EDTA Vacutte (5 ml)

10

30

Cystic Fibrosis: Delta F508 mutation

Peripheral Blood

EDTA Vacutte (5 ml)

7

31

Cystic Fibrosis: Eight common mutations [dF508, G542X, G551D, R553X, R117H, 1792 insA, 1161delC, 1525-1 (G-A)]

Peripheral Blood

EDTA Vacutte (5 ml)

15

32

Cystic Fibrosis: CFTR gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

33

Cystic Fibrosis: Prenatal Diagnosis: Eight common mutations [dF508, G542X, G551D, R553X, R117H, 1792 insA, 1161delC, 1525-1 (G-A)]

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA vaccute (5 ml)

21-30

34

Deafness gene panel: Deafness gene panel (73 gene)

Peripheral Blood

EDTA Vacutte (5 ml)

60

35

Duchenne Muscular Dystrophy: Deletion analysis for 20 exons

Peripheral Blood

EDTA Vacutte (5 ml)

15

36

Duchenne Muscular Dystrophy: Deletion & Duplication study by MLPA

Peripheral Blood

EDTA Vacutte (5 ml)

21-30

37

Duchenne Muscular Dystrophy: Carrier analysis

Peripheral Blood

EDTA Vacutte (5 ml)

15

38

Duchenne Muscular Dystrophy: Prenatal Diagnosis (CVS/ AF)

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA vaccute (5 ml)

30

39

Dentatorubral-pallidoluysian atrophy (DRPLA): CAG Repeat study (ATN1 gene)

Peripheral Blood

EDTA Vacutte (5 ml)

15

40

Dystonia: DYT1 gene deletion

Peripheral Blood

EDTA Vacutte (5 ml)

15

41

Dystonia: DYT1 gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

30

42

Epidermolysis Bullosa Dystrophica COL7A1 gene mutation: exon 73-75

Peripheral Blood

EDTA Vacutte (5 ml)

30

43

Epidermolysis Bullosa Simplex: KRT15 gene (exon 1,4,6)

Peripheral Blood

EDTA Vacutte (5 ml)

30

44

Hemophilia, Thrombosis: Factor II (Prothrombin) gene G20210A mutation

Peripheral Blood

EDTA Vacutte (5 ml)

15

45

Hemophilia: Factor V (Leiden) gene G1691A mutation

Peripheral Blood

EDTA Vacutte (5 ml)

15

46

Hemophilia: Factor II and V gene G20210A and G1691A mutation

Peripheral Blood

EDTA Vacutte (5 ml)

15

47

Fanconi Anemia: FANCA gene mutation

Peripheral Blood

EDTA Vacutte (5 ml)

60

48

Fanconi Anemia: FANCA gene mutation prenatal study

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA vaccute (5 ml)

60

49

Fragile X Syndrome: FMR1 geneSouthern Blot analysis for FRAXA locus (CGG repeats)

Peripheral Blood

EDTA Vacutte (5 ml)

30

50

Fragile X Syndrome: FMR1 geneSouthern Blot analysis for FRAXA locus (CGG repeats) Prenatal Diagnosis

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA vaccute  (5 ml)

30

51

Friedreich Ataxia: GAA Repeats (FXN gene)

Peripheral Blood

EDTA Vacutte (5 ml)

15

52

G6PD deficiency: Orissa, Mediterranean and Kerala-Kalyan mutations

Peripheral Blood

EDTA Vacutte (5 ml)

15

53

Gaucher Disease: GBA gene (L444P and N370S mutation)

Peripheral Blood

EDTA Vacutte (5 ml)

15

54

Gaucher Disease: GBA gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

55

Glutaric academia: GCDH gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

56

Glycogen Storage Disease Type I A: G6PC gene by sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

57

GM1 gangliosidosis:  GLB1 gene mutation study

Peripheral Blood

EDTA Vacutte (5 ml)

60

58

GM2A activator protein deficiency:  GM2A gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

30

59

Harlequin Ichthyosis: ABCA12 gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

60

Hemoglobin D disease: (Punjab) cd121 (G-C) mutation

Peripheral Blood

EDTA Vacutte (5 ml)

7

61

Hemoglobin D disease: (Punjab)cd121 (G-C) mutation (Prenatal Diagnosis)

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA Vacutte (5 ml)

15-21

62

Hemoglobin E (Iran): Cd26 (T-C) mutation

Peripheral Blood

EDTA Vacutte (5 ml)

7

63

Hemoglobin E (Iran): Cd26 (T-C) mutation (Prenatal Diagnosis)

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA Vacutte (5 ml)

15-21

64

Hemoglobin S disease: Sickle Cell: Cd6(A-T) mutation

Peripheral Blood

EDTA Vacutte (5 ml)

15

65

Hemoglobin S disease: Sickle Cell: Cd6(A-T) mutation (Parents)

Peripheral Blood

EDTA Vacutte (5 ml)

15

66

Hemoglobin S disease: Sickle Cell: Cd6(A-T) mutation (Parents + Child)

Peripheral Blood

EDTA Vacutte (5 ml)

15

67

Hemophilia A: Intron-1 & 22 inversion mutation

Peripheral Blood

EDTA Vacutte (5 ml)

15

68

Hemophilia A: Carrier analysis @ intragenic markers (BclI, Xbal, In 13 & 22)

Peripheral Blood

EDTA Vacutte (5 ml)

15

69

Hemophilia A: Prenatal Diagnosis

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA Vacutte (5 ml)

30

70

Hemophilia B: Carrier analysis @ intragenic markers (Hhal, Ddel, TaqI)

Peripheral Blood

EDTA Vacutte (5 ml)

15

71

Hereditary Hemochromatosis:  H63D and C302Y mutations

Peripheral Blood

EDTA Vacutte (5 ml)

15

72

Huntington's disease:  Triplet  CAG Repeat expansion

Peripheral Blood

EDTA Vacutte (5 ml)

15

73

Krabbe Disease:  GALC 30kb deletion

Peripheral Blood

EDTA Vacutte (5 ml)

15

74

Lamellar Icthyosis: TGM1 sequence study

Peripheral Blood

EDTA Vacutte (5 ml)

60

75

Leigh syndrome: 3 mutations (T12706C, A13084T, G13513A)

Peripheral Blood

EDTA Vacutte (5 ml)

15

76

Leigh syndrome: single mutation(T12706C, A13084T, G13513A)

Peripheral Blood

EDTA Vacutte (5 ml)

15

77

Leigh syndrome: SURF1  gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

78

Leber hereditary optic atrophy (LHON): 3 mutations (G3460A, G11778A, T15484C)

Peripheral Blood

EDTA Vacutte (5 ml)

15

79

Methylmalonic acidemia gene panel : MMA gene panel

Peripheral Blood

EDTA Vacutte (5 ml)

60

80

Myoclonic epilepsy with ragged-red fibers: (MERRF) A8344G, MERRF/MELAS: T8356C, MELAS: A3243G, A3291C, T3271C, LEIGH/NARP:T8993C,T8993G

Peripheral Blood

EDTA Vacutte (5 ml)

30

81

Mitochondrial Disease: (ATP6,COX3 and ND3 gene sequencing)

Peripheral Blood

EDTA Vacutte (5 ml)

30

82

Mitochondrial encephalopathy: Mitochondrial encephalopathy gene panel (67 genes)

Peripheral Blood

EDTA Vacutte (5 ml)

60

83

Megalencephalic leukoencephalopathy: MLC1 (c135-136 Ins C) (Vander Knaap mutation)

Peripheral Blood

EDTA Vacutte (5 ml)

15

84

Megalencephalic leukoencephalopathy:  MLC1 gene sequencing (Vander Knaap disease)

Peripheral Blood

EDTA Vacutte (5 ml)

40

85

MTHFR:  MTHFR gene polymorphisms 677T>C and 1298A>C mutations

Peripheral Blood

EDTA Vacutte (5 ml)

15

86

Myotonic Dystrophy:  DMPKI or DMPKII gene triple repeat expansion CTG study Southern Blot based analysis

Peripheral Blood

EDTA Vacutte (5 ml)

15

87

Myotonic Dystrophy:  Myotonic Dystrophy I or II: Prenatal Diagnosis

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA Vacutte (5 ml)

30

88

Muscular dystrophy:  Muscular dystrophy gene panel (37 genes)

Peripheral Blood

EDTA Vacutte (5 ml)

60

89

Neuropathy, Ataxia and retinis pigmentosa (NARP): T8993G mutation for NARP

Peripheral Blood

EDTA Vacutte (5 ml)

15

90

Neurofibrometatosis type 1:  (NF1)NF1 gene sequencing KNOWN MUTATION

Peripheral Blood

EDTA Vacutte (5 ml)

21-30

91

Neimann Pick Disease A/B (NPD-A/B): SMPD1 gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

92

Neimann Pick Disease C: (NPC)NPC1 and NPC2 gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

93

Deafness: Connexin 26 (GJB2) gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

30

94

Deafness:  W24X mutation study in GJB2 gene

Peripheral Blood

EDTA Vacutte (5 ml)

15

95

Deafness Non-Syndromic Hearing Loss (NSHL): Prenatal study

Peripheral Blood

EDTA Vacutte (5 ml)

30

96

Oculocutaneous Albinism: OCA1 Gene study (R278X)

Peripheral Blood

EDTA Vacutte (5 ml)

15

97

Oculocutaneous Albinism: OCA1 Gene (R278X) study Prenatal Diagnosis

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA Vacutte (5 ml)

30

98

Osteogenesis imperfecta: Gene Panel Gene Panel

Peripheral Blood

EDTA Vacutte (5 ml)

60

99

Osteopetrosis: TCIRG1 gene – exon 11 sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

100

Hallervoden Spatz Syndrome:  PANK2 gene sequencing exon 1

Peripheral Blood

EDTA Vacutte (5 ml)

30

101

Alper's disease: POLG1 gene common mutations (Sequencing of Exon 7,13, 16)

Peripheral Blood

EDTA Vacutte (5 ml)

30

102

Alper's disease: POLG1 gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

103

Polycythemia vera:  (JAK2 mutation)V617F mutation

Peripheral Blood

EDTA Vacutte (5 ml)

15

104

Progressive Myoclonic Epilepsy: Progressive Myoclonic Epilepsy gene panel

Peripheral Blood

EDTA Vacutte (5 ml)

60

105

Retinis Pigmentosa: Retinis Pigmentosa Study - X linked  disorder

Peripheral Blood

EDTA Vacutte (5 ml)

106

Retinis Pigmentosa Retinis Pigmentosa Study: Autosomal recessive

Peripheral Blood

EDTA Vacutte (5 ml)

107

Retinis Pigmentosa: Retinis Pigmentosa Study - Autosomal dominant

Peripheral Blood

EDTA Vacutte (5 ml)

108

Rett Syndrome:MECP2 gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

30

109

Sandhoff disease: Common mutation (R304X)

Peripheral Blood

EDTA Vacutte (5 ml)

10

110

Spinal Bulbar muscular Dystrophy:  (CAG repeats)

Peripheral Blood

EDTA Vacutte (5 ml)

15

111

Spinal Muscular Atrophy:  Deletion analysis (exon 7 & 8 only)

Peripheral Blood

EDTA Vacutte (5 ml)

15

112

Spinal Muscular Atrophy: Carrier analysis using Q-PCR (exon 7 only) SMN1 gene

Peripheral Blood

EDTA Vacutte (5 ml)

15

113

Spinal Muscular Atrophy: SMN1 gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

30

115

Spinal Muscular Atrophy: Prenatal Diagnosis

Amniotic Fluid
Chorionic Villus
Peripheral Blood

AF: sterile container (20 ml)
CV: Sterile container with transport medium (30 mg)
Blood: EDTA Vacutte (5 ml)

30

115

Spinocerebellar Ataxia: Spinocerebellar Ataxias 1, 2, and 3 (Panel)

Peripheral Blood

EDTA Vacutte (5 ml)

15

116

Spinocerebellar Ataxia: Spinocerebellar Ataxias 1, 2, 3 and 6 (Panel)

Peripheral Blood

EDTA Vacutte (5 ml)

15

117

Spinocerebellar Ataxia: Spinocerebellar Ataxias 1, 2, 3, 6 and 12 (Panel)

Peripheral Blood

EDTA Vacutte (5 ml)

15

118

Spinocerebellar Ataxia: Spinocerebellar Ataxias 1, 2, 3, 6 or 12 (Each individually)

Peripheral Blood

EDTA Vacutte (5 ml)

15

119

Infertility, male: SRY gene deletion study

Peripheral Blood

EDTA Vacutte (5 ml)

15

120

Infertility, male: Yq deletion study

Peripheral Blood

EDTA Vacutte (5 ml)

15

121

Tay-Sach's disease: (p.D322Y, p.E462V, c.1278insTATC, c.805+1G-C) 4 mutations

Peripheral Blood

EDTA Vacutte (5 ml)

30

122

Tay-Sach's disease: HEXA gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

90

123

Tay-Sach's disease: HEXA gene deletion/duplication

Peripheral Blood

EDTA Vacutte (5 ml)

30

124

Tuberous sclerosis type: 2TSC2 gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

125

Tyrosinemia: FAH gene Mutation study for exon 8 and exon 13

Peripheral Blood

EDTA Vacutte (5 ml)

15

126

Tyrosinemia: (FAH gene) gene sequencing  study

Peripheral Blood

EDTA Vacutte (5 ml)

60

127

Crigler-Najjar Syndrome: UGT1A1  gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

130

Wilson disease:  ATP7B gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

30

129

X-linked Ichthyosis:  Steroid sulfatase defeciency STS gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

130

Xeroderma Pigmentosa: XPC gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

60

131

X-linked Adrenoleuko dystrophy (ALD): ABCD1 gene sequencing

Peripheral Blood

EDTA Vacutte (5 ml)

30

132

X linked Severe combined immunodeficiency syndrome:  X linked Severe combined immunodeficiency syndrome (IL2R gene sequencing) 8 exons

Peripheral Blood

EDTA Vacutte (5 ml)

30


NGS Panel Tests

Email us for price inquiry on jshethad1@gmail.com