We offer specialized diagnostic services for all specialties. Any specialist can order any test available in the US for their patients. If you need a confirmatory tests or if any tests are not available at your facilities in India, iPhysician Diagnostics can serve as an extension to your lab services so that you can offer all the available tests in the US to your patients. If you require any specific test that is not listed, you can contact us for additional details.
| S.No. | Tests | Description | Enquiry |
|---|---|---|---|
| 1. | BRCA1/2 Comprehensive Analysis (BRCAssure℠) | According to the National Comprehensive Cancer Network,1 testing is indicated
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| 2. | BRCA1/2 Deletion/Duplication Analysis (BRCAssure℠) | If no mutation or inconclusive results are reported after sequence analysis
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| 3. | α-Thalassemia, DNA Analysis | α-Thalassemia, DNA Analysis
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| 4. | β-Thalassemia: HBB Prenatal Test (Full Sequencing) | Use for prenatal analysis. Can confirm a clinical diagnosis of β-thalassemia
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| 5. | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): DSG2 (Full Gene Sequencing) | Confirm a clinical diagnosis of ARVD/C; identify presymptomatic family members
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| 6. | Pancreatitis: Three-gene Profile (PRSS1, SPINK1, CFTR) (Full Gene Sequencing) | Pancreatitis: Three-gene Profile (PRSS1, SPINK1, CFTR) (Full Gene Sequencing)
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| 7. | Atrial Septal Defect (ASD) With Atrioventricular Block (AVB): NKX2.5 (Full Gene Sequencing) | Identify NKX2.5 mutations as the cause of familial ASD, indicating high risk of AVB
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| 8. | Early-onset Coronary Heart Disease/Familial Hypercholesterolemia: LDLR (Full Gene Sequencing) | Confirm a clinical diagnosis of familial hypercholesterolemia; allow early diagnosis in family members
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| 9. | SCN1A Sequencing, Full Gene | Severe myoclonic epilepsy of infancy (SMEI, OMIM: 607208), also known as Dravet syndrome
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| 10. | MECP2 Sequencing, Full Gene | Detects mutations in the gene for methyl-CpG-binding protein 2 (MECP2),
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| 11. | GJB2 Sequencing, Full Gene Sequencing | Detects mutations in the coding region and noncoding first exon of the connexin 26
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| 12. | Bardet-Biedl Syndrome (BBS): BBS1 (Full Gene Sequencing) | Confirm a clinical diagnosis of BBS; detect carriers; allow early diagnosis in family members
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| 13. | Bardet-Biedl Syndrome (BBS): BBS2 (Full Gene Sequencing) | Confirm a clinical diagnosis of BBS; detect carriers; allow early diagnosis in family members
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| 14. | Bardet-Biedl Syndrome (BBS): Two-gene Profile (BBS1, BBS2) (Full Gene Sequencing) | Confirm a clinical diagnosis of BBS; detect carriers; allow early diagnosis in family members
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| 15. | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): PKP2(Full Gene Sequencing) | Confirm a clinical diagnosis of ARVD/C; identify presymptomatic family members
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| 16. | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): DSC2(Full Gene Sequencing) | Confirm a clinical diagnosis of ARVD/C; identify presymptomatic family members
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| 17. | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): DSP(Full Gene Sequencing) | Confirm a clinical diagnosis of ARVD/C; identify presymptomatic family members
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| 18. | Hypertrophic Cardiomyopathy (HCM): MYH7 (Full Gene Sequencing) | Confirm a clinical diagnosis of HCM; identify presymptomatic family members
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