General Endocrinology
DNA Labs India | Diagnostic Tests
General Endocrinology
Clinical Overview
Sub-category mapping under Genetics & Genomics
| Reviewed by: Dr. Rajesh Kumar, MD Pathology | ISO 9001:2015 Certified Laboratory
This content is for educational purposes only. Always consult a qualified healthcare provider for medical advice.
Tests
Growth Disorder Panel Test
The Growth Disorder Panel Test is used to: - Diagnose growth hormone deficiency in children and adu...
CYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency NGS Genetic Test
To detect mutations in the CYP21A2 gene for the diagnosis of adrenal hyperplasia due to 21-hydroxyla...
NKX2-2 Gene Maturity-onset diabetes of the young, NKX2-2 related NGS Genetic Test
To detect pathogenic variants in the NKX2-2 gene and other MODY-related genes for accurate diagnosis...
HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic Test
To detect mutations in the HSD17B3 gene associated with pseudohermaphroditism and gynecomastia for d...
CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the CYP27B1 gene that cause vitamin D-dependent...
TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic Test
To diagnose Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HDR syndrome) by identifying pathog...
TSHR Gene Hypothyroidism congenital nongoitrous type 1 NGS Genetic Test
The purpose of this test is to confirm a diagnosis of congenital nongoitrous hypothyroidism by analy...
TSHB Gene Hypothyroidism congenital nongoitrous type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the TSHB gene that cause congenital non...
PAX8 Gene Hypothyroidism congenital nongoitrous type 2, familial NGS Genetic Test
To identify mutations in the PAX8 gene associated with congenital nongoitrous hypothyroidism type 2...
TRHR Gene Hypothyroidism, isolated, TRHR related NGS Genetic Test
The purpose of the TRHR Gene Hypothyroidism Test is to identify mutations in the TRHR gene that caus...
ANOS1 Gene Kallmann syndrome type 1 NGS Genetic Test
The purpose of the ANOS1 Gene Kallmann Syndrome Type 1 NGS Genetic Test is to confirm a clinical dia...
PROK2 Gene Kallmann syndrome type 4 NGS Genetic Test
The purpose of this test is to detect mutations in the PROK2 gene that cause Kallmann Syndrome Type...
GHR Gene Laron syndrome NGS Genetic Test
To identify mutations in the GHR gene for early diagnosis and risk assessment of Laron Syndrome.
SEMA3A Gene Kallmann syndrome, SEMA3A related NGS Genetic Test
To identify mutations in the SEMA3A gene for the diagnosis of Kallmann syndrome and related disorder...
FGFR1 Gene Kallmann syndrome type 2 NGS Genetic Test
The purpose of the FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic Test is to identify mutations in...
PCSK1 Gene Obesity with impaired prohormone processing NGS Genetic Test
To diagnose mutations in the PCSK1 gene causing obesity with impaired prohormone processing, aiding...
MC4R Gene Obesity NGS Genetic Test
To identify mutations in the MC4R gene associated with obesity for personalized medical management a...
LEP Gene Obesity due to leptin deficiency NGS Genetic Test
To detect mutations in the LEP gene that cause leptin deficiency and associated obesity, aiding in d...
POMC Gene Obesity, early-onset, susceptibility to NGS Genetic Test
To diagnose POMC gene mutations for early-onset obesity susceptibility, enabling personalized treatm...
PPARG Gene Obesity, severe NGS Genetic Test
To identify mutations in the PPARG gene associated with severe obesity for diagnosis and personalize...
SLC5A5 Gene Thyroid dyshormonogenesis type 1 NGS Genetic Test
To detect mutations in the SLC5A5 gene responsible for thyroid dyshormonogenesis type 1, aiding in d...
DUOX2 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test
To diagnose mutations in the DUOX2 gene causing thyroid dyshormonogenesis type 6, facilitating early...
DUOXA2 Gene Thyroid dyshormonogenesis type 5 NGS Genetic Test
To diagnose DUOXA2 gene mutations causing thyroid dyshormonogenesis type 5, enabling targeted treatm...
THRB Gene Thyroid hormone resistance NGS Genetic Test
To diagnose thyroid hormone resistance by detecting mutations in the THRB gene through NGS technolog...
SECISBP2 Gene Thyroid hormone metabolism abnormal NGS Genetic Test
To identify mutations in the SECISBP2 gene that cause thyroid hormone metabolism abnormalities, aidi...
CDKN1B Gene Multiple endocrine neoplasia type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the CDKN1B gene to diagnose Multiple E...
CDKN2B Gene Multiple endocrine neoplasia type 1, CDKN2B related NGS Genetic Test
The purpose of the CDKN2B Gene NGS Genetic Test is to detect mutations or variants in the CDKN2B gen...
AIP Gene Pituitary adenoma, ACTH-secreting, due to AIP germline mutation NGS Genetic Test
To identify germline mutations in the AIP gene associated with ACTH-secreting pituitary adenomas, ai...
CAH (Congenital Adrenal Hyperplasia) Full Gene Sequence Analysis
The purpose of the CAH Full Gene Sequence Analysis is to identify genetic mutations causing Congenit...
PEX1 Gene Peroxisome biogenesis disorder type 1B NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing sequence variants in the PEX1 gene...
HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic Test
The purpose of the HSD3B2 Gene NGS Genetic Test is to detect pathogenic mutations in the HSD3B2 gene...
AGPAT2 Gene Lipodystrophy generalized type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the AGPAT2 gene associated with generalized lipod...
AIRE Gene Autoimmune polyendocrinopathy syndrome type 1 NGS Genetic Test
To diagnose Autoimmune Polyendocrinopathy Syndrome Type 1 by detecting mutations in the AIRE gene us...
Congenital adrenal hyperplasia Panel NGS Genetic Test
To diagnose Congenital Adrenal Hyperplasia by identifying genetic mutations in associated genes, ena...
TBX19 Gene Adrenocorticotropic hormone deficiency NGS Genetic Test
To identify pathogenic mutations in the TBX19 gene that cause adrenocorticotropic hormone (ACTH) def...
CYP11A1 Gene Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete NGS Genetic Test
To diagnose CYP11A1 gene mutations causing congenital adrenal insufficiency and 46XY sex reversal fo...
GPR101 Gene Acromegaly, predisposition to, due to germline GPR101 mutation NGS Genetic Test
The purpose of the GPR101 Gene Acromegaly NGS Genetic Test is to identify germline mutations in the...
AR Gene Androgen insensitivity NGS Genetic Test
To diagnose Androgen Insensitivity Syndrome and related disorders by identifying mutations in the AR...
AR Gene Androgen insensitivity, partial, with or without breast cancer NGS Genetic Test
To identify mutations in the AR gene for diagnosis of androgen insensitivity syndrome and associated...
SHBG Gene Androgen-binding protein deficiency NGS Genetic Test
To identify genetic mutations in the SHBG gene causing androgen-binding protein deficiency, aiding i...
NR3C1 Gene Glucocorticoid resistance, generalized NGS Genetic Test
To identify mutations in the NR3C1 gene that cause glucocorticoid resistance, aiding in diagnosis, t...
NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test
To diagnose glucocorticoid deficiency type 4 by detecting pathogenic mutations in the NNT gene using...
KEAP1 Gene Goitre, multinodular NGS Genetic Test
To identify genetic mutations in the KEAP1 gene that may contribute to the development of multinodul...
GHRHR Gene Growth hormone deficiency NGS Genetic Test
The purpose of the GHRHR Gene Growth Hormone Deficiency NGS Genetic Test is to detect pathogenic mut...
GH1 Gene Growth hormone deficiency NGS Genetic Test
The purpose of the GH1 Gene Growth Hormone Deficiency NGS Genetic Test is to identify mutations in t...
KCNJ5 Gene Hyperaldosteronism type 3 NGS Genetic Test
To identify mutations in the KCNJ5 gene that cause Hyperaldosteronism type 3, aiding in accurate dia...
CDC73 Gene Hyperparathyroidism type 1, familial NGS Genetic Test
To detect mutations in the CDC73 gene for diagnosis of Familial Hyperparathyroidism type 1, enabling...
CASR Gene Hyperparathyroidism, neonatal severe NGS Genetic Test
The purpose of this test is to detect mutations in the CASR gene that cause neonatal severe hyperpar...
CDC73 Gene Hyperparathyroidism type 2, familial NGS Genetic Test
To detect mutations in the CDC73 gene for the diagnosis of familial hyperparathyroidism type 2 and t...
CASR Gene Hypocalcemia, autosomal dominant, with Bartter syndrome NGS Genetic Test
To identify mutations in the CASR gene that cause autosomal dominant hypocalcemia with Bartter syndr...
CASR Gene Hypocalciuric hypercalcemia, type 1 NGS Genetic Test
To diagnose hypocalciuric hypercalcemia type 1 by detecting pathogenic mutations in the CASR gene us...
NSMF Gene Hypogonadotropic hypogonadism NGS Genetic Test
The purpose of the NSMF Gene Hypogonadotropic Hypogonadism NGS Genetic Test is to identify mutations...
KISS1R Gene Hypogonadotropic hypogonadism NGS Genetic Test
To identify pathogenic mutations in the KISS1R gene that cause hypogonadotropic hypogonadism, aiding...
LHB Gene Hypogonadotropic hypogonadism NGS Genetic Test
The purpose of the LHB Gene Hypogonadotropic Hypogonadism NGS Genetic Test is to detect pathogenic m...
TAC3 Gene Hypogonadotropic hypogonadism type 10 with or without anosmia NGS Genetic Test
To diagnose mutations in the TAC3 gene causing hypogonadotropic hypogonadism type 10, enabling early...
TACR3 Gene Hypogonadotropic hypogonadism type 11 with or without anosmia NGS Genetic Test
To diagnose mutations in the TACR3 gene causing hypogonadotropic hypogonadism type 11 with or withou...
GNRH1 Gene Hypogonadotropic hypogonadism type 12 with or without anosmia NGS Genetic Test
The purpose of this test is to detect mutations in the GNRH1 gene to confirm a diagnosis of hypogona...
PROKR2 Gene Hypogonadotropic hypogonadism type 3 with or without anosmia NGS Genetic Test
The purpose of this test is to diagnose hypogonadotropic hypogonadism type 3 caused by mutations in...
HS6ST1 Gene Hypogonadotropic hypogonadism type 15 with or without anosmia NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the HS6ST1 gene to confirm a diagnosi...
GNRHR Gene Hypogonadotropic hypogonadism type 7 with or without anosmia NGS Genetic Test
The purpose of this test is to detect mutations in the GNRHR gene that cause hypogonadotropic hypogo...
GCM2 Gene Hypoparathyroidism, familial isolated NGS Genetic Test
The purpose of this test is to identify mutations in the GCM2 gene that cause familial isolated hypo...
THRA Gene Hypothyroidism congenital nongoitrous type 6 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the THRA gene that cause congenital...
MEN1 Gene Multiple endocrine neoplasia type 1 NGS Genetic Test
The purpose of the MEN1 NGS Genetic Test is to detect mutations in the MEN1 gene to diagnose Multipl...
SLC9A3R1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the SLC9A3R1 gen...
SOX3 Gene Panhypopituitarism, X-linked NGS Genetic Test
To identify mutations in the SOX3 gene that cause panhypopituitarism, enabling accurate diagnosis an...
CDC73 Gene Parathyroid adenoma with cystic changes, familial NGS Genetic Test
To detect mutations in the CDC73 gene associated with familial parathyroid adenoma with cystic chang...
LHX3 Gene Pituitary hormone deficiency, combined type 3 NGS Genetic Test
To diagnose mutations in the LHX3 gene that cause combined pituitary hormone deficiency type 3, enab...
PRKAR1A Gene Pigmented nodular adrenocortical disease type 1, primary NGS Genetic Test
To diagnose Pigmented Nodular Adrenocortical Disease Type 1 by identifying mutations in the PRKAR1A...
LHX4 Gene Pituitary hormone deficiency, combined type 4 NGS Genetic Test
The purpose of this test is to diagnose genetic predisposition to pituitary hormone deficiency by de...
SULT2B1 Gene Polycystic ovary syndrome type 1 NGS Genetic Test
The purpose of this test is to identify variations in the SULT2B1 gene that may be associated with P...
SULT2A1 Gene Polycystic ovary syndrome type 1 NGS Genetic Test
To identify genetic variations in the SULT2A1 gene associated with Polycystic Ovary Syndrome Type 1,...
CACNA1D Gene Primary aldosteronism, seizures, and neurologic abnormalities NGS Genetic Test
To identify mutations in the CACNA1D gene that cause primary aldosteronism, seizures, and neurologic...
SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test
To identify mutations in the SCNN1A gene for diagnosis of Pseudohypoaldosteronism type 1, autosomal...
NR3C2 Gene Pseudohypoaldosteronism, type 1, autosomal dominant NGS Genetic Test
The purpose of this test is to diagnose pseudohypoaldosteronism type 1 by identifying mutations in t...
WNK4 Gene Pseudohypoaldosteronism, type 2B NGS Genetic Test
The purpose of this test is to diagnose pseudohypoaldosteronism type 2B by detecting pathogenic muta...
GNAS Gene Pseudohypoparathyroidism type 1B NGS Genetic Test
To diagnose pseudohypoparathyroidism type 1B by analyzing the GNAS gene for mutations, aiding in cli...
GNAS Gene Pseudopseudohypoparathyroidism NGS Genetic Test
The purpose of the GNAS Gene Pseudopseudohypoparathyroidism NGS Genetic Test is to detect mutations...
GNAS Gene Pseudohypoparathyroidism type 1A NGS Genetic Test
To identify mutations in the GNAS gene associated with pseudohypoparathyroidism type 1A for accurate...
FGF8 Gene Hypogonadotropic hypogonadism type 6 with or without anosmia NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the FGF8 gene that cause Hypogonado...
POU1F1 Gene Pituitary hormone deficiency type 1 NGS Genetic Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of POU1F1-related combined p...
PROP1 Gene Pituitary hormone deficiency type 2 NGS Genetic Test
The primary purpose of this test is to identify mutations in the PROP1 gene that cause combined pitu...
SHOX Gene Short stature syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the SHOX gene that cause short stat...