| Genes (full coding region): |
ALPK1, ATP1A2, ATP1A3, CACNA1A, CSNK1D, KCNK6, KCNK18, NOTCH3, PNKD, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1, SLC4A4 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
| Gene | Condition |
| ANOS1 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) |
| AR | Aplasia of the uterus |
| BMP15 | Premature ovarian failure 4 |
| BMP4 | Microphthalmia, syndromic 6; Orofacial cleft 11 |
| CASR | Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant; Hypocalciuric hypercalcemia, type I |
| CFTR | Cystic fibrosis |
| CLPP | Perrault syndrome 3 |
| DUOX2 | Thyroid dyshormonogenesis 6 |
| DUOXA2 | Thyroid dyshormonogenesis 5 |
| DUSP6 | Hypogonadotropic hypogonadism 19 with or without anosmia |
| EIF2B1 | Leukoencephalopathy with vanishing white matter |
| EIF2B2 | Ovarioleukodystrophy |
| EIF2B4 | Ovarioleukodystrophy |
| EIF2B5 | Ovarioleukodystrophy |
| ERCC6 | Premature ovarian failure 11 |
| ESR1 | Estrogen resistance |
| ESR2 | Ovarian dysgenesis 8 |
| F2 | Thrombophilia due to thrombin defect; Pregnancy loss, recurrent, susceptibility to, 2 |
| F5 | Thrombophilia due to activated protein C resistance; Factor V deficiency; Pregnancy loss, recurrent, susceptibility to, 1 |
| FEZF1 | Hypogonadotropic hypogonadism 22, with or without anosmia |
| FGF17 | Hypogonadotropic hypogonadism 20 with or without anosmia |
| FGF8 | Hypogonadotropic hypogonadism 6 with or without anosmia |
| FGFR1 | Hypogonadotropic hypogonadism 2 with or without anosmia |
| FIGLA | Premature ovarian failure 6 |
| FLRT3 | Hypogonadotropic hypogonadism 21 with anosmia |
| FMR1 | Premature ovarian failure 1 |
| FOXE1 | Bamforth-Lazarus syndrome |
| FOXL2 | Premature ovarian failure 3 |
| FSHB | Hypogonadotropic hypogonadism 24 without anosmia |
| FSHR | Ovarian dysgenesis 1; Ovarian hyperstimulation syndrome; Ovarian response to FSH stimulation |
| GCM2 | Hyperparathyroidism 4; Hypoparathyroidism, familial isolated |
| GDF9 | Premature ovarian failure 14 |
| GHR | Growth hormone insensitivity, partial; Laron dwarfism |
| GLIS3 | Diabetes mellitus, neonatal, with congenital hypothyroidism |
| GNAS | McCune-Albright syndrome; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism; Osseous heteroplasia, progressive |
| GNRH1 | Hypogonadotropic hypogonadism 12 with or without anosmia |
| GNRHR | Hypogonadotropic hypogonadism 7 without anosmia |
| HARS2 | Perrault syndrome 2 |
| HESX1 | Growth hormone deficiency with pituitary anomalies |
| HFM1 | Premature ovarian failure 9 |
| HSD17B4 | Perrault syndrome 1 |
| HS6ST1 | Hypogonadotropic hypogonadism 15 with or without anosmia |
| IGSF1 | Hypothyroidism, central, and testicular enlargement |
| IL17RD | Hypogonadotropic hypogonadism 18 with or without anosmia |
| IRS4 | Hypothyroidism, congenital, nongoitrous, 9 |
| IYD | Thyroid dyshormonogenesis 4 |
| KISS1 | Hypogonadotropic hypogonadism 13 with or without anosmia |
| KISS1R | Hypogonadotropic hypogonadism 8 with or without anosmia; Precocious puberty, central, 1 |
| LARS2 | Perrault syndrome 4 |
| LHCGR | Leydig cell hypoplasia with hypergonadotropic hypogonadism |
| LHB | Isolated lutropin deficiency |
| LHX3 | Pituitary hormone deficiency, combined, 3 |
| LHX4 | Pituitary hormone deficiency, combined, 4 |
| MCM8 | Premature ovarian failure 10 |
| MCM9 | Ovarian dysgenesis 4 |
| MSH5 | Premature ovarian failure 13 |
| MRPS22 | Ovarian dysgenesis 7 |
| MTHFR | Homocystinuria due to MTHFR deficiency |
| NKX2-1 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
| NKX2-5 | Hypothyroidism, congenital nongoitrous, 5 |
| NOBOX | Premature ovarian failure 5 |
| NR0B1 | Adrenal hypoplasia, congenital; 46XY sex reversal 2, dosage-sensitive |
| NR5A1 | Premature ovarian failure 7; 46, XX sex reversal 4; 46XY sex reversal 3 |
| NSMF | Hypogonadotropic hypogonadism 9 with or without anosmia |
| NUP107 | Ovarian dysgenesis 6; Nephrotic syndrome, type 11; Galloway-Mowat syndrome 7 |
| OTX2 | Pituitary hormone deficiency, combined, 6; Retinal dystrophy, early-onset, with or without pituitary dysfunction |
| PADI6 | Preimplantation embryonic lethality 2 |
| PATL2 | Oocyte maturation defect 4 |
| PAX8 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
| PDE3A | Hypertension and brachydactyly syndrome |
| POLR3B | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
| POU1F1 | Pituitary hormone deficiency, combined, 1 |
| PROC | Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due to protein C deficiency, autosomal recessive |
| PROK2 | Hypogonadotropic hypogonadism 4 with or without anosmia |
| PROKR2 | Hypogonadotropic hypogonadism 3 with or without anosmia |
| PROP1 | Pituitary hormone deficiency, combined, 2 |
| PROS1 | Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive |
| PSMC3IP | Ovarian dysgenesis 3 |
| SECISBP2 | Thyroid hormone metabolism, abnormal |
| SEMA3A | Hypogonadotropic hypogonadism 16 with or without anosmia |
| SERPINC1 | Thrombophilia due to antithrombin III deficiency |
| SERPINE1 | Plasminogen activator inhibitor-1 deficiency |
| SLC26A4 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; Pendred syndrome |
| SLC5A5 | Thyroid dyshormonogenesis 1 |
| SOHLH1 | Ovarian dysgenesis 5 |
| SOX10 | PCWH syndrome; Waardenburg syndrome, type 2E, with or without neurologic involvement; Waardenburg syndrome, type 4C |
| SOX2 | Microphthalmia, syndromic 3 |
| SOX3 | Mental retardation, X-linked, with isolated growth hormone deficiency; Panhypopituitarism, X-linked |
| SPRY4 | Hypogonadotropic hypogonadism 17 with or without anosmia |
| SRA1 | Hypogonadism with anosmia |
| STAG3 | Premature ovarian failure 8 |
| SYCE1 | Premature ovarian failure 12 |
| SYCP3 | Pregnancy loss, recurrent, 4 |
| TAC3 | Hypogonadotropic hypogonadism 10 with or without anosmia |
| TACR3 | Hypogonadotropic hypogonadism 11 with or without anosmia |
| TBL1X | Hypothyroidism, congenital, nongoitrous, 8 |
| TG | Thyroid dyshormonogenesis 3 |
| THBD | Thrombophilia due to thrombomodulin defect |
| THRA | Hypothyroidism, congenital, nongoitrous, 6 |
| THRB | Thyroid hormone resistance; Thyroid hormone resistance, autosomal recessive; Thyroid hormone resistance, selective pituitary |
| TPO | Thyroid dyshormonogenesis 2A |
| TRH | Thyrotropin-releasing hormone deficiency |
| TRHR | Hypothyroidism, congenital, nongoitrous, 7 |
| TSHB | Hypothyroidism, congenital, nongoitrous 4 |
| TSHR | Hyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1 |
| TUBB8 | Oocyte maturation defect 2 |
| WDR11 | Hypogonadotropic hypogonadism 14 with or without anosmia |
| WEE2 | Oocyte maturation defect 5 |
| WNT4 | Mullerian aplasia and hyperandrogenism; SERKAL syndrome |
| WT1 | Frasier syndrome; Denys-Drash syndrome; Meacham syndrome |
| ZP1 | Oocyte maturation defect 1 |
| ZP2 | Oocyte maturation defect 6 |
| ZP3 | Oocyte maturation defect 3 |
| Genes: | ANOS1, AR, AXL, BMP15, BMP4, CASR, CCDC141, CFTR, CLPP, CPEB1, DUOX1, DUOX2, DUOXA2, DUSP6, EIF2B1, EIF2B2, EIF2B4, EIF2B5, EIF4ENIF1, ERCC6, ESR1, ESR2, F2, F5, FEZF1, FGF17, FGF8, FGFR1, FIGLA, FLRT3, FMR1 (incl CGG trinucleotide repeat expansion), FOXE1, FOXL2, FSHB, FSHR, GCM2, GDF9, GHR, GLIS3, GNAS, GNRH1, GNRHR, HARS2, HESX1, HFM1, HSD17B4, HS6ST1, IGSF1, IL17RD, INHA, IRS4, IYD, KISS1, KISS1R, LARS2, LHCGR, LHB, LHX3, LHX4, LHX8, MCM8, MCM9, MRPS22, MSH5, MTHFR, NANOS3, NKX2-1, NKX2-5, NLRP2, NLRP5, NOBOX, NR0B1, NR5A1, NSMF, NUP107, OTX2, PADI6, PATL2, PAX8, PDE3A, PLCZ1, POLR3B, POU1F1, PROC, PROK2, PROKR2, PROP1, PROS1, PSMC3IP, SECISBP2, SEMA3A, SERPINC1, SERPINE1, SLC26A4, SLC5A5, SMC1B, SOHLH1, SOX10, SOX2, SOX3, SPIDR, SPRY4, SRA1, STAG3, SYCE1, SYCE3, SYCP3, TAC3, TACR3, TBL1X, TG, THBD, THRA, THRB, TPO, TRH, TRHR, TSHB, TSHR, TTF1, TUBB8, WDR11, WEE2, WNT4, WT1, ZP1, ZP2, ZP3 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
Female factors account for at least 35% of all infertility cases and comprise a wide range of causes affecting ovarian development, maturation of oocytes, and fertilization competence as well as the potential of a fertilized egg for preimplantation development, implantation, and fetal growth.
Other factors influencing female infertility include diseases such as polycystic ovarian syndrome (PCOS) and endometriosis, and the cumulative effects of environmental factors and lifestyle. PCOS, the most common cause of infertility is a complex, hormonal and metabolic disorder affecting 5–20% of women of reproductive age. The disease is characterised by hyperandrogenism, ovulatory dysfunction, polycystic ovarian morphology and gonadotropic abnormalities. Endometriosis affects 7–10% of women and is associated with infertility.
Genetic abnormalities leading to infertility in females encompass large chromosome abnormalities, submicroscopic chromosome deletion and duplications, and DNA sequence variations in the genes involved in oogenesis, maintenance of ovarian reserve, hormonal signaling, and anatomical and functional development of female reproductive organs. Genetic abnormalities are implicated in about 10% of female infertility cases.
References:
Dallel, M. et al 2018. Differential association of DENND1A genetic variants with polycystic ovary syndrome in Tunisian but not Bahraini Arab women. Gene 647, 79–84
Day, FR et al 2015. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat. Commun. 6, 8464.
Foresta, C 2002. Guidelines for the appropriate use of genetic tests in infertile couples. European Journal of Human Genetics, 10(5), 303–312.
Gajbhiye, R et al 2018. Complex genetics of female fertility. Npj Genomic Medicine, 3(1).
Giudice, LC and Kao, LC 2004. Endometriosis. Lancet 364, 1789–1799.
Azziz, R 2016. PCOS in 2015: New insights into the genetics of polycystic ovary syndrome. Nat. Rev. Endocrinol. 12, 183.
Lambalk, CB et al 2017. GnRH antagonist versus long agonist protocols in IVF: a systematic review and meta-analysis accounting for patient type. Hum Reprod.
Lawler, AM and Gearhart, JD 1998. Genetic counselling for patients who will be undergoing treatmnent with assisted reproductive technology. Fertil Steril 70: 412 ± 413.
Norman, RJ et al 2007. Polycystic ovary syndrome. Lancet 370, 685–697.
Venkatesh, T et al 2014. New insights into the genetic basis of infertility. Appl Clin Genet. 2014; 7: 235–243.
Yatsenko, SA and Rajkovic, A 2019. Genetics of human female infertility. Biol Reprod. 2019 Sep 1;101(3):549-566.
Multiple new genes have been added to our mitochondrial diseases nuclear gene set. Visit www.asperbio.com/asper-neurogenetics/mitochondrial-diseases/ to see the complete list of genes.
Epilepsy panel and Autism Spectrum Disorders panels have been updated with multiple new genes. Discover more at www.asperbio.com/asper-neurogenetics/
Familial TAAD and related syndromes NGS panel has been updated with new genes. Visit www.asperbio.com/familial-taad-NGS-panel to see the complete list of genes.
Epilepsy NGS panel now covers the analysis of disease-associated non-coding variants. List of variants is available www.asperbio.com/list-of-non-coding-variants-covered-by-epilepsy-ngs-panel/
| Gene | Condition |
| ADCY5 | Dyskinesia, familial, with facial myokymia |
| KCNMA1 | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 |
| PNKD | Paroxysmal nonkinesigenic dyskinesia 1 |
| PRRT2 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 |
| SLC2A1 | Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2, childhood onset; Stomatin-deficient cryohydrocytosis with neurologic defects; Epilepsy, idiopathic generalized, susceptibility to, 12 |
| Genes (full coding region): |
ADCY5, KCNMA1, PNKD, PRRT2, SLC2A1 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
CACNA1S, RYR1, STAC3 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
Malignant hyperthermia is an inherited pharmacogenetic disorder of calcium regulation resulting in uncontrolled skeletal muscle hypermetabolism.
Manifestations of MH are triggered by certain volatile anesthetics (i.e. halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with succinylcholine, a depolarizing muscle relaxant. The triggering substances initiate uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate.
MH clinical manifestations are hyperthermia, hypercapnia, tachycardia, acidosis, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure.
In nearly all cases, the first manifestations of MH occur in the operating room, MH may also occur in the early postoperative period. Recent studies show that some individuals with MH will also develop the disorder with exercise and/or on exposure to hot environments. Without prompt treatment with dantrolene sodium, mortality is extremely high.
MH is an autosomal dominant disorder.
References:
Riazi S, Kraeva N, Hopkins PM. Updated guide for the management of malignant hyperthermia. Can J Anaesth. 2018;65:709–21.
Rosenberg H et al. Malignant Hyperthermia Susceptibility. GeneReviews® Initial Posting: December 19, 2003; Last Update: January 16, 2020.
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Malignant hyperthermia: A review. Orphanet J Rare Dis. 2015;10:93.
| Gene | Condition |
| AK7 | Spermatogenic failure 27 |
| ADGRG2 | Congenital bilateral absence of vas deferens, X-linked |
| AMH | Persistent Mullerian duct syndrome, type I |
| AMHR2 | Persistent Mullerian duct syndrome, type II |
| ANOS1 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) |
| AR | Androgen insensitivity; Androgen insensitivity, partial, with or without breast cancer; Hypospadias 1, X-linked; Spinal and bulbar muscular atrophy of Kennedy; Prostate cancer, susceptibility to |
| ARMC2 | Spermatogenic failure 38 |
| AURKC | Spermatogenic failure 5 |
| BMP4 | Microphthalmia, syndromic 6; Orofacial cleft 11 |
| BNC2 | Lower urinary tract obstruction, congenital |
| BRDT | Spermatogenic failure 21 |
| CASR | Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant; Hypocalciuric hypercalcemia, type I |
| CATSPER1 | Spermatogenic failure 7 |
| CCDC39 | Ciliary dyskinesia, primary, 14 |
| CYP17A1 | 17-alpha-hydroxylase/17,20-lyase deficiency |
| CYP11B1 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable |
| CFAP43 | Spermatogenic failure 19 |
| CFAP44 | Spermatogenic failure 20 |
| CFAP69 | Spermatogenic failure 24 |
| CFTR | Congenital bilateral absence of vas deferens; Cystic fibrosis |
| DNAH1 | Spermatogenic failure 18 |
| DNAH11 | Ciliary dyskinesia, primary, 7, with or without situs inversus |
| DNAH5 | Ciliary dyskinesia, primary, 3, with or without situs inversus |
| DNAH6 | Abnormal spermatogenesis |
| DNAI1 | Ciliary dyskinesia, primary, 1, with or without situs inversus |
| DPY19L2 | Spermatogenic failure 9 |
| DUOX2 | Thyroid dyshormonogenesis 6 |
| DUOXA2 | Thyroid dyshormonogenesis 5 |
| FANCM | Spermatogenic failure 28 |
| FEZF1 | Hypogonadotropic hypogonadism 22, with or without anosmia |
| FGF17 | Hypogonadotropic hypogonadism 20 with or without anosmia |
| FGF8 | Hypogonadotropic hypogonadism 6 with or without anosmia |
| FGFR1 | Hypogonadotropic hypogonadism 2 with or without anosmia |
| FLRT3 | Hypogonadotropic hypogonadism 21 with anosmia |
| FOXE1 | Bamforth-Lazarus syndrome |
| FSHB | Hypogonadotropic hypogonadism 24 without anosmia |
| FSIP2 | Spermatogenic failure 34 |
| GCM2 | Hyperparathyroidism 4; Hypoparathyroidism, familial isolated |
| GHR | Growth hormone insensitivity, partial; Laron dwarfism |
| GLIS3 | Diabetes mellitus, neonatal, with congenital hypothyroidism |
| GNAS | McCune-Albright syndrome; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism; Osseous heteroplasia, progressive |
| GNRH1 | Hypogonadotropic hypogonadism 12 with or without anosmia |
| GNRHR | Hypogonadotropic hypogonadism 7 without anosmia |
| HESX1 | Growth hormone deficiency with pituitary anomalies |
| HSD3B2 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
| HS6ST1 | Hypogonadotropic hypogonadism 15 with or without anosmia |
| IGSF1 | Hypothyroidism, central, and testicular enlargement |
| IL17RD | Hypogonadotropic hypogonadism 18 with or without anosmia |
| INSL3 | Cryptorchidism |
| IRS4 | Hypothyroidism, congenital, nongoitrous, 9 |
| IYD | Thyroid dyshormonogenesis 4 |
| KISS1R | Hypogonadotropic hypogonadism 8 with or without anosmia; Precocious puberty, central, 1 |
| KLHL10 | Spermatogenic failure 11 |
| LHB | Isolated lutropin deficiency |
| LHX3 | Pituitary hormone deficiency, combined, 3 |
| LHX4 | Pituitary hormone deficiency, combined, 4 |
| MAMLD1 | Hypospadias 2, X-linked |
| M1AP | Spermatogenesis maturation arrest; Non-obstructive azoospermia |
| MEI1 | Hydatidiform mole, recurrent, 3 |
| LRRC6 | Ciliary dyskinesia, primary, 19 |
| MEI1 | Hydatidiform mole, recurrent, 3 |
| MEIOB | Spermatogenic failure 22 |
| NANOS1 | Spermatogenic failure 12 |
| NKX2-1 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
| NKX2-5 | Hypothyroidism, congenital nongoitrous, 5 |
| NR5A1 | Spermatogenic failure 8; Adrenocortical insufficiency; 46XY sex reversal 3; 46, XX sex reversal 4 |
| NR0B1 | Adrenal hypoplasia, congenital; 46XY sex reversal 2, dosage-sensitive |
| NSMF | Hypogonadotropic hypogonadism 9 with or without anosmia |
| OTX2 | Pituitary hormone deficiency, combined, 6; Retinal dystrophy, early-onset, with or without pituitary dysfunction |
| PANK2 | HARP syndrome; Neurodegeneration with brain iron accumulation 1 |
| PAX8 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
| PDE3A | Hypertension and brachydactyly syndrome |
| PLCZ1 | Spermatogenic failure 17 |
| PMFBP1 | Spermatogenic failure 31 |
| POU1F1 | Pituitary hormone deficiency, combined, 1 |
| PPP2R3C | Spermatogenic failure 36; Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
| PROK2 | Hypogonadotropic hypogonadism 4 with or without anosmia |
| PROKR2 | Hypogonadotropic hypogonadism 3 with or without anosmia |
| PROP1 | Pituitary hormone deficiency, combined, 2 |
| QRICH2 | Spermatogenic failure 35 |
| RNF212 | Recombination rate QTL 1 |
| RSPO1 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal |
| SECISBP2 | Thyroid hormone metabolism, abnormal |
| SEMA3A | Hypogonadotropic hypogonadism 16 with or without anosmia |
| SEPTIN12 | Spermatogenic failure 10 |
| SLC26A4 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; Pendred syndrome |
| SLC26A8 | Spermatogenic failure 3 |
| SLC5A5 | Thyroid dyshormonogenesis 1 |
| SLC9A3 | Diarrhea 8, secretory sodium, congenital |
| SOHLH1 | Spermatogenic failure 32 |
| SOX10 | PCWH syndrome; Waardenburg syndrome, type 2E, with or without neurologic involvement; Waardenburg syndrome, type 4C |
| SOX2 | Microphthalmia, syndromic 3 |
| SOX3 | Mental retardation, X-linked, with isolated growth hormone deficiency; Panhypopituitarism, X-linked |
| SOX9 | Campomelic dysplasia with autosomal sex reversal |
| SPATA16 | Spermatogenic failure 6 |
| SPINK2 | Spermatogenic failure 29 |
| SRA1 | Hypogonadism with anosmia |
| SRD5A2 | Pseudovaginal perineoscrotal hypospadias |
| STAG3 | Non-obstructive azoospermia; Spermatogenesis maturation arrest |
| SUN5 | Spermatogenic failure 16 |
| SYCE1 | Spermatogenic failure 15 |
| SYCP3 | Spermatogenic failure 4 |
| TAC3 | Hypogonadotropic hypogonadism 10 with or without anosmia |
| TACR3 | Hypogonadotropic hypogonadism 11 with or without anosmia |
| TAF4B | Spermatogenic failure 13 |
| TBL1X | Hypothyroidism, congenital, nongoitrous, 8 |
| TDRD9 | Spermatogenic failure 30 |
| TEX11 | Spermatogenic failure, X-linked, 2 |
| TEX14 | Spermatogenic failure 23 |
| TEX15 | Spermatogenic failure 25 |
| TG | Thyroid dyshormonogenesis 3 |
| THRA | Hypothyroidism, congenital, nongoitrous, 6 |
| THRB | Thyroid hormone resistance; Thyroid hormone resistance, autosomal recessive; Thyroid hormone resistance, selective pituitary |
| TPO | Thyroid dyshormonogenesis 2A |
| TRH | Thyrotropin-releasing hormone deficiency |
| TRHR | Hypothyroidism, congenital, nongoitrous, 7 |
| TRIM37 | Mulibrey nanism |
| TSGA10 | Spermatogenic failure 26 |
| TSHB | Hypothyroidism, congenital, nongoitrous 4 |
| TSHR | Hyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1 |
| TTC21A | Spermatogenic failure 37 |
| USP9Y | Spermatogenic failure, Y-linked, 2 |
| UTP14C | Congenital disorder of glycosylation |
| WDR11 | Hypogonadotropic hypogonadism 14 with or without anosmia |
| WDR66 | Spermatogenic failure 33 |
| XRCC2 | Fanconi anemia, complementation group U |
| ZMYND15 | Spermatogenic failure 14 |
| Gene | Condition |
| ALG1 | Congenital disorder of glycosylation, type Ik |
| ALG11 | Congenital disorder of glycosylation, type Ip |
| ALG12 | Congenital disorder of glycosylation, type Ig |
| ALG13 | Congenital disorder of glycosylation, type Is |
| ALG2 | Congenital disorder of glycosylation, type Ii; Myasthenic syndrome, congenital, 14, with tubular aggregates |
| ALG3 | Congenital disorder of glycosylation, type Id |
| ALG6 | Congenital disorder of glycosylation, type Ic |
| ALG8 | Congenital disorder of glycosylation, type Ih; Polycystic liver disease 3 with or without kidney cysts |
| ALG9 | Congenital disorder of glycosylation, type Il; Gillessen-Kaesbach-Nishimura syndrome |
| ATP6V0A2 | Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome |
| B4GALT1 | Congenital disorder of glycosylation, type IId |
| B3GLCT | Peters-plus syndrome |
| COG1 | Congenital disorder of glycosylation, type IIg |
| COG2 | Congenital disorder of glycosylation, type IIq |
| COG4 | Congenital disorder of glycosylation, type IIj; Saul-Wilson syndrome |
| COG5 | Congenital disorder of glycosylation, type IIi |
| COG6 | Congenital disorder of glycosylation, type IIl; Shaheen syndrome |
| COG7 | Congenital disorder of glycosylation, type IIe |
| COG8 | Congenital disorder of glycosylation, type IIh |
| DDOST | Congenital disorder of glycosylation, type Ir |
| DHDDS | Congenital disorder of glycosylation, type 1bb; Developmental delay and seizures with or without movement abnormalities |
| DOLK | Congenital disorder of glycosylation, type Im |
| DPAGT1 | Congenital disorder of glycosylation, type Ij; Myasthenic syndrome, congenital, 13, with tubular aggregates |
| DPM1 | Congenital disorder of glycosylation, type Ie |
| DPM2 | Congenital disorder of glycosylation, type Iu |
| DPM3 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 |
| GMPPA | Alacrima, achalasia, and mental retardation syndrome |
| GNE | Nonaka myopathy; Sialuria |
| MAGT1 | Congenital disorder of glycosylation, type Icc; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia |
| MAN1B1 | Mental retardation, autosomal recessive 15 |
| MGAT2 | Congenital disorder of glycosylation, type IIa |
| MOGS | Congenital disorder of glycosylation, type IIb |
| MPDU1 | Congenital disorder of glycosylation, type If |
| MPI | Congenital disorder of glycosylation, type Ib |
| NGLY1 | Congenital disorder of deglycosylation |
| PGM1 | Congenital disorder of glycosylation, type It |
| PGM3 | Immunodeficiency 23 |
| PMM2 | Congenital disorder of glycosylation, type Ia |
| RFT1 | Congenital disorder of glycosylation, type In |
| SEC23B | Cowden syndrome 7; Dyserythropoietic anemia, congenital, type II |
| SLC35A1 | Congenital disorder of glycosylation, type IIf |
| SLC35A2 | Congenital disorder of glycosylation, type IIm |
| SLC35C1 | Congenital disorder of glycosylation, type IIc |
| SRD5A3 | Congenital disorder of glycosylation, type Iq; Kahrizi syndrome |
| SSR4 | Congenital disorder of glycosylation, type Iy |
| STT3A | Congenital disorder of glycosylation, type Iw |
| STT3B | Congenital disorder of glycosylation, type Ix |
| TMEM165 | Congenital disorder of glycosylation, type IIk |
| TUSC3 | Mental retardation, autosomal recessive 7 |
| Genes (full coding region): |
ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, B3GLCT, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, GNE, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PGM3, PMM2, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Genetic testing for Kallmann Syndrome is now available. New gene panel consists of 25 carefully selected genes and includes detection of single nucleotide polymorphisms (SNPs), insertions and deletions, as well as copy number variations (CNVs). Discover more at www.asperbio.com/asper-endocrinology/kallmann-syndrome-ngs-panel/
| Gene | Condition |
| ANOS1 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) |
| FEZF1 | Hypogonadotropic hypogonadism 22, with or without anosmia |
| FGF17 | Hypogonadotropic hypogonadism 20 with or without anosmia |
| FGF8 | Hypogonadotropic hypogonadism 6 with or without anosmia |
| FGFR1 | Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis; Hartsfield syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Osteoglophonic dysplasia; Trigonocephaly 1 |
| FLRT3 | Hypogonadotropic hypogonadism 21 with anosmia |
| FSHB | Hypogonadotropic hypogonadism 24 without anosmia |
| GNRH1 | Hypogonadotropic hypogonadism 12 with or without anosmia |
| GNRHR | Hypogonadotropic hypogonadism 7 without anosmia |
| HESX1 | Growth hormone deficiency with pituitary anomalies |
| HS6ST1 | Hypogonadotropic hypogonadism 15 with or without anosmia |
| IL17RD | Hypogonadotropic hypogonadism 18 with or without anosmia |
| KISS1 | Hypogonadotropic hypogonadism 13 with or without anosmia |
| KISS1R | Hypogonadotropic hypogonadism 8 with or without anosmia |
| LHB | Hypogonadotropic hypogonadism 23 with or without anosmia |
| NSMF | Hypogonadotropic hypogonadism 9 with or without anosmia |
| POLR3B | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
| PROK2 | Hypogonadotropic hypogonadism 4 with or without anosmia |
| PROKR2 | Hypogonadotropic hypogonadism 3 with or without anosmia |
| SEMA3A | Hypogonadotropic hypogonadism 16 with or without anosmia |
| SOX10 | PCWH syndrome, Waardenburg syndrome, type 2E, with or without neurologic involvement, Waardenburg syndrome, type 4C |
| SPRY4 | Hypogonadotropic hypogonadism 17 with or without anosmia |
| TAC3 | Hypogonadotropic hypogonadism 10 with or without anosmia |
| TACR3 | Hypogonadotropic hypogonadism 11 with or without anosmia |
| WDR11 | Hypogonadotropic hypogonadism 14 with or without anosmia |
| Genes (full coding region): |
ANOS1, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, LHB, NSMF, POLR3B, PROK2, PROKR2, SEMA3A, SOX10, SPRY4, TAC3, TACR3, WDR11 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Prostate Cancer panel has been updated with 3 new genes. View the full list of genes www.asperbio.com/prostate-cancer-ngs-panel/
Updated versions of Vitreoretinopathy and comprehensive Eye Diseases NGS panels are now available. Order here www.asperbio.com/Asper_Ophthalmics_order_form
| Lab method: | NGS with CNV analysis |
| TAT: | 10 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Diagnosing of genetically and phenotypically heterogeneous group of disorders
3. Testing patients with atypical phenotype
4. Diagnosis of patients with genetic disorders for which diagnostic panels are not available
5. Genetic counseling
Exome sequencing includes the sequencing of the protein coding regions and their flanking intronic regions in ~20,000 genes of the human genome. The coding region represents 1-2% of the human genome but contains approximately 85% of disease-causing mutations. Exome sequencing is performed on the HiSeq sequencer, Illumina Inc with the following characteristics: 70-100x average coverage, 214,405 target exons.
Trio exome sequencing of family members, usually affected child with parents is highly recommended for faster and more precise identifying of disease-causing mutation and determining the pattern of inheritance. In addition to patient’s phenotype/disease associated variants, incidental findings are reported according to ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Exome sequencing can be an efficient tool for clinicians to confirm patients’ diagnosis of complicated conditions not covered by conventional testing approaches.
| Genes (full coding region): |
CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
| Gene | Condition |
| ALG8 | Polycystic liver disease 3 with or without kidney cysts; Congenital disorder of glycosylation, type Ih |
| ANKS6 | Nephronophthisis 16 |
| BICC1 | Renal dysplasia, cystic, susceptibility to |
| COL4A1 | Retinal arteries, tortuosity of; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to |
| DNAJB11 | Polycystic kidney disease 6 with or without polycystic liver disease |
| DZIP1L | Polycystic kidney disease 5 |
| GANAB | Polycystic kidney disease 3 |
| HNF1B | Renal cysts and diabetes syndrome; Diabetes mellitus, noninsulin-dependent; Renal cell carcinoma |
| LRP5 | Exudative vitreoretinopathy 4; Hyperostosis, endosteal; Osteopetrosis, autosomal dominant 1; Osteoporosis-pseudoglioma syndrome; Polycystic liver disease 4 with or without kidney cysts; van Buchem disease, type 2 |
| MUC1 | Medullary cystic kidney disease 1 |
| NOTCH2 | Alagille syndrome 2; Hajdu-Cheney syndrome |
| OFD1 | Retinitis pigmentosa 23; Joubert syndrome 10; Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2 |
| PKD1 | Polycystic kidney disease 1 |
| PKD2 | Polycystic kidney disease 2 |
| PKHD1 | Polycystic kidney disease 4, with or without hepatic disease |
| PRKCSH | Polycystic liver disease 1 |
| SEC63 | Polycystic liver disease 2 |
| SEC61A1 | Hyperuricemic nephropathy, familial juvenile, 4 |
| TSC1 | Lymphangioleiomyomatosis; Tuberous sclerosis-1 |
| TSC2 | Tuberous sclerosis-2 |
| UMOD | Glomerulocystic kidney disease with hyperuricemia and isosthenuria; Hyperuricemic nephropathy, familial juvenile 1; Medullary cystic kidney disease 2 |
| VHL | Erythrocytosis, familial, 2; Pheochromocytoma; von Hippel-Lindau syndrome |
| ZNF423 | Nephronophthisis 14 |
| Genes (full coding region): |
ALG8, ANKS6, BICC1, COL4A1, DNAJB11, DZIP1L, GANAB, HNF1B, LRP5, MUC1, NOTCH2, OFD1, PKD1, PKD2, PKHD1, PRKCSH, SEC63, SEC61A1, TSC1, TSC2, UMOD, VHL, ZNF423 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
| Gene | Condition |
| ACTN4 | Glomerulosclerosis, focal segmental, 1 |
| ARHGDIA | Nephrotic syndrome, type 8 |
| COQ2 | Coenzyme Q10 deficiency, primary, 1 |
| COQ8B | Nephrotic syndrome, type 9 |
| DGKE | Nephrotic syndrome, type 7 |
| EMP2 | Nephrotic syndrome, type 10 |
| ITGA3 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
| LAMB2 | Nephrotic syndrome, type 5, with or without ocular abnormalities; Pierson syndrome |
| NPHS1 | Nephrotic syndrome, type 1 |
| NPHS2 | Nephrotic syndrome, type 2 |
| PLCE1 | Nephrotic syndrome, type 3 |
| PTPRO | Nephrotic syndrome, type 6 |
| SMARCAL1 | Schimke immunoosseous dysplasia |
| WDR73 | Galloway-Mowat syndrome 1 |
| WT1 | Wilms tumor, type 1; Denys-Drash syndrome; Frasier syndrome; Meacham syndrome; Nephrotic syndrome, type 4 |
| Genes (full coding region): |
ACTN4, ARHGDIA, COQ2, COQ8B, DGKE, EMP2, ITGA3, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, SMARCAL1, WDR73, WT1 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
| Gene | Condition |
| ANKS6 | Nephronophthisis 16 |
| CEP83 | Nephronophthisis 18 |
| CEP164 | Nephronophthisis 15 |
| CEP290 | Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; Senior-Loken syndrome 6 |
| DCDC2 | Nephronophthisis 19; Deafness, autosomal recessive 66; Sclerosing cholangitis, neonatal |
| GLIS2 | Nephronophthisis 7 |
| INVS | Nephronophthisis 2, infantile |
| IFT172 | Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydactyly |
| IQCB1 | Senior-Loken syndrome 5 |
| NEK8 | Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 |
| NPHP1 | Joubert syndrome 4; Nephronophthisis 1, juvenile; Senior-Loken syndrome-1 |
| NPHP3 | Meckel syndrome 7; Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1 |
| NPHP4 | Senior-Loken syndrome 4 |
| RPGRIP1L | COACH syndrome; Joubert syndrome 7; Meckel syndrome 5 |
| SDCCAG8 | Bardet-Biedl syndrome 16; Senior-Loken syndrome 7 |
| TMEM67 | RHYNS syndrome; COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; Nephronophthisis 11 |
| TTC21B | Short-rib thoracic dysplasia 4 with or without polydactyly; Nephronophthisis 12 |
| WDR19 | Senior-Loken syndrome 8; Nephronophthisis 13; Short-rib thoracic dysplasia 5 with or without polydactyly; Cranioectodermal dysplasia 4 |
| XPNPEP3 | Nephronophthisis-like nephropathy 1 |
| ZNF423 | Joubert syndrome 19 |
| Genes (full coding regions): |
ANKS6, CEP83, CEP164, CEP290, DCDC2, GLIS2, INVS, IFT172, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
| Gene | Condition |
| ADAMTS13 | Thrombotic thrombocytopenic purpura, familial |
| C3 | C3 deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 5; Macular degeneration, age-related, 9 |
| CD46 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 |
| CFB | Complement factor B deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 4; |
| CFH | Complement factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Macular degeneration, age-related, 4; Basal laminar drusen |
| CFHR1 | Hemolytic uremic syndrome, atypical, susceptibility to |
| CFHR3 | Hemolytic uremic syndrome, atypical, susceptibility to |
| CFHR5 | Nephropathy due to CFHR5 deficiency |
| CFI | Complement factor I deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 3; Macular degeneration, age-related, 13, susceptibility to |
| DGKE | Nephrotic syndrome, type 7; Hemolytic uremic syndrome, atypical, susceptibility to, 7 |
| THBD | Thrombophilia due to thrombomodulin defect; Hemolytic uremic syndrome, atypical, susceptibility to, 6 |
| Genes (full coding region): |
ACVR2B, ADGRV1, AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ATXN10, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2CD3, C2ORF71, C5ORF42, C8ORF37, C21ORF2, C21ORF59, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH23, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFTR, CLRN1, CRB1, CSPP1, DCDC2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, EVC, EVC2, FOXH1, GAS8, GDF1, GLIS2, IFT43, IFT80, IFT122, IFT140, IFT172, INPP5E, INVS, IQCB1, KIAA0586, KIF7, LEFTY2, LRRC6, MCIDAS, MKKS, MKS1, NEK1, NEK8, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PKD2, PKHD1, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SDCCAG8, SPAG1, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRIM32, TTC21B, TTC8, WDPCP, WDR19, WDR34, WDR35, WDR60, XPNPEP3, ZIC3, ZMYND10, ZNF423 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes (full coding region): |
ALMS1 (excluding exon 8), ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CCDC28B, CEP290, GNAS, IFT27, IFT172, LZTFL1, MKKS, MKS1, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Asper Nephrology offers gene panels for the diagnostics of hereditary renal diseases, including common monogenic diseases such as polycystic kidney disease, as well as complex disorders. To establish the genetic cause of renal diseases we use next-generation sequencing technology to accommodate a broad differential diagnosis. CNV analysis based on sequencing data is also available to enhance gene identification. Pathogenic/likely pathogenic findings are confirmed using additional technologies.
Accurate diagnosis of the precise genetic cause of the renal disorder is essential for genetic counseling and prediction of risks for affected individuals; furthermore, it allows prenatal diagnosis or pre-implantation genetic diagnosis.
| Genes (full coding region): |
MAOA |
| Lab method: | NGS |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
All NGS panels in Asper Otogenetics testing menu now include CNV analysis. Read more at www.asperbio.com/asper-otogenetics/
| Gene | Condition |
| ACVRL1 | Telangiectasia, hereditary hemorrhagic, type 2 |
| ENG | Telangiectasia, hereditary hemorrhagic, type 1 |
| GDF2 | Telangiectasia, hereditary hemorrhagic, type 5 |
| RASA1 | Capillary malformation-arteriovenous malformation 1 |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Myhre syndrome; Polyposis, juvenile intestinal |
| Genes (full coding region): |
ACVRL1, ENG, GDF2, RASA1, SMAD4 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins.
Spontaneous recurrent nosebleeds are the most common and usually earliest clinical manifestation of HHT. Telangiectases are found primarily on the lips, tongue, buccal mucosa, face, chest, and fingers. AVMs occur most commonly in the lungs, liver, and brain. Major complications of HHT include severe anaemia from chronic nasal and gastrointestinal haemorrhage, stroke, deep venous thromboses, and severe pulmonary hypertension.
HHT affects 1 in 5–8000, and is inherited as an autosomal-dominant trait.
References:
Govani FS Shovlin CL 2009. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009 Jul; 17(7): 860–871. Published online 2009 Apr 1. doi: 10.1038/ejhg.2009.35
Kjeldsen ADet al 1999. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med. 1999;245:31–39.
McDonald J and Pyeritz RE 2000. Hereditary Hemorrhagic Telangiectasia. GeneReviews®. Last Update: February 2, 2017.
| Gene | Condition |
| ATM | Ataxia-telangiectasia; Breast cancer, susceptibility to |
| BRCA1 | Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S |
| BRCA2 | Fanconi anemia, complementation group D1; Wilms tumor; Breast cancer, male, susceptibility to; Breast-ovarian cancer, familial, 2; Glioblastoma 3; Medulloblastoma; Pancreatic cancer 2; Prostate cancer |
| CHEK2 | Breast cancer, susceptibility to; Prostate cancer, familial, susceptibility to; Li-Fraumeni syndrome; Osteosarcoma, somatic |
| EPCAM | Colorectal cancer, hereditary nonpolyposis, type 8 |
| HOXB13 | Prostate cancer, hereditary, 9 |
| MLH1 | Mismatch repair cancer syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Muir-Torre syndrome |
| MSH2 | Mismatch repair cancer syndrome; Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome |
| MSH6 | Mismatch repair cancer syndrome; Colorectal cancer, hereditary nonpolyposis, type 5; Endometrial cancer, familial |
| NBN | Nijmegen breakage syndrome; Leukemia, acute lymphoblastic; Aplastic anemia |
| PALB2 | Fanconi anemia, complementation group N; Breast cancer, susceptibility to; Pancreatic cancer, susceptibility to, 3 |
| RNASEL | Prostate cancer 1 |
| TP53 | Breast cancer; Adrenal cortical carcinoma; Choroid plexus papilloma; Colorectal cancer; Li-Fraumeni syndrome; Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer; Basal cell carcinoma 7; Glioma susceptibility 1 |
| Genes (full coding region): |
ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, RNASEL, TP53 |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
We have added 14 new disease-causing genes to our spinocerebellar ataxia panel. Discover more at www.asperbio.com/spinocerebellar-ataxia/
NGS panel for Ectopia Lentis is now available. Visit www.asperbio.com/ectopia-lentis to read more.
| Gene | Condition |
| AASS | Hyperlysinemia |
| ADAMTS10 | Weill-Marchesani syndrome 1, recessive |
| ADAMTS17 | Weill-Marchesani 4 syndrome, recessive |
| ADAMTSL4 | Ectopia lentis et pupillae; Ectopia lentis, isolated, autosomal recessive |
| ASPH | Traboulsi syndrome |
| BCOR | Microphthalmia, syndromic 2 |
| CBS | Homocystinuria, B6-responsive and nonresponsive types |
| COL8A2 | Corneal dystrophy, Fuchs endothelial, 1; Corneal dystrophy, posterior polymorphous 2 |
| COL18A1 | Knobloch syndrome, type 1 |
| CYP1B1 | Anterior segment dysgenesis 6, multiple subtypes; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
| FBN1 | Ectopia lentis, familial; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant |
| FOXC1 | Anterior segment dysgenesis 3, multiple subtypes; Axenfeld-Rieger syndrome, type 3 |
| LTBP2 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3, recessive |
| PAX6 | Aniridia; Anterior segment dysgenesis 5, multiple subtypes; Foveal hypoplasia 1; Keratitis; Optic nerve hypoplasia; Coloboma of optic nerve; Coloboma, ocular |
| P3H2 | Myopia, high, with cataract and vitreoretinal degeneration |
| PORCN | Focal dermal hypoplasia |
| SUOX | Sulfite oxidase deficiency |
| VSX2 | Microphthalmia with coloboma 3; Microphthalmia, isolated 2 |