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- アイテム説明
▶ 不妊症検査とは
妊娠率は、妊活を始めた最初の1ヵ月で約30%と最も高く、その後は徐々に低下し、1年後には約5%に減少します。累積妊娠率は6ヵ月後に約75%、1年後に約90%、2年後には約95%に達します。自然妊娠の可能性は年齢、妊娠歴、不妊期間、タイミング、体重変動、医学的要因などに影響されます。不妊症は、避妊なしで1年間定期的に性交しても妊娠しない場合に定義され、一般的には1年後に検査を行いますが、早期の検査が適切な場合もあります。
日本では、約6組に1組のカップルが不妊に悩み、その約半数が男性側に原因があります。男性不妊の原因には無精子症や乏精子症などがあり、遺伝的要因も増加しています。女性側も、妊娠が難しい生殖年齢女性が約10%おり、不妊症の原因の35%以上が女性側に関係しています。これには卵巣の発育や卵子の成熟、受精・着床能力などが含まれ、遺伝的な染色体異常や遺伝子変異も影響を与えます。
不妊症の遺伝子検査について
- 男性不妊症に関連する40の遺伝子における一塩基変異(SNV)、挿入や欠失(INDEL)、コピー数多型(CNV)を網羅的にスクリーニング
- 性染色体の異常やモザイク型異常も検出可能
『Gene-Checker Infertility (ジーン・チェッカーの遺伝性不妊検査)』は、治療計画や臨床管理を決定する上で重要です。治療の可否、健康リスクの有無を明らかにし、妊孕性の維持や補助生殖技術の適用確認に役立ちます。また、着床前診断や出生前診断など、遺伝リスク管理に必要な情報を提供し、遺伝カウンセリングや個別の臨床方針に貢献します。
▶ 不妊症検査とは
- 妊娠が遅れている方
- 性染色体異常による特有の症状がある方
- 月経不順や無月経の方(生理が来ない、不規則、または非常に軽い)
- 生殖補助医療(ART)治療を受ける予定の方
- 卵子提供の候補者の方
- ご家族に不妊の病歴がある方
- ご家族に脆弱X症候群の病歴がある方
- 肥満、るいそう、甲状腺疾患、または糖尿病をお持ちの方
- お子さまをお考えの方
- 妊娠に悩んでいるパートナーがいる方
- 精子数が少ない、または精子の形状や運動に異常がある方
- 精子提供を検討している方
『Gene-Checker Infertility (ジーン・チェッカーの遺伝性不妊検査)』は、女性不妊症に関連する55種類の遺伝子男性不妊症に関連する40種類の遺伝子について、一塩基変異(SNV)、挿入や欠失(INDEL)、およびコピー数多型(CNV)を網羅的にスクリーニングします。このパネルは、性染色体の全体的または部分的な異常やモザイク型の異常も検出可能です。
不妊症の遺伝子検査は、治療や臨床管理の方向性を決定する上で重要な役割を果たします。治療可能か不可逆的か、さらには健康にリスクがあるかを特定する助けとなり、妊孕性を維持するための早期介入や、補助生殖技術の適合性確認にも役立ちます。また、将来の子どもへの遺伝的リスクを管理するため、着床前診断や出生前診断といった予防的措置が可能になります。こうした情報は、適切な遺伝カウンセリングや個別化された臨床方針の策定に欠かせないものであり、精度の高い予後評価を提供します。
▶ 不妊症検査の流れ
- 検体の採取は、頬の内側を綿棒で軽くこすってください。
- キットに同封されている返信用封筒に検体を入れ、記載された住所宛に郵送をお願いします。
- 検査結果が出ましたら、Eメールにて結果をお知らせいたします。
結果についてご不明な点やご心配な点がございましたら、当クリニックの医師による診察の手配をさせていただきます。
本検査に関するお問い合わせはお電話(☎0120-915-967)またはメールで承ります。お気軽にご連絡ください。▶ 弊社の『Gene-Checker Infertility (ジーン・チェッカーの遺伝性不妊検査)』を選ぶ理由
Gene-Checker Infertilityの便利さに関して3つのポイント
- 検査は自宅で完結します。病院へ行かなくても、Generio Storeから購入すれば、自宅で簡単に検査することができます。
- 結果に基づいて、遺伝子カウンセリングを受けることができます。購入者限定で、専門医師の診察もご利用いただけます。医師から検査結果に関する詳しい説明を受けることができ、陰性の方でもご相談が可能です。
- 検体返送料が無料です。返送に必要なものは、すべて検査キットに同梱されていますので、検査キットをご購入いただくだけですべて完結!
▶ さらに詳しくはこちら
s/n
男性不妊症遺伝子パネル
Associated Reproductive Genetic Condition
関連する生殖遺伝病
文献
1
AIRE
Reduced Embryonic Development; Ovarian Follicular Depletion; Infiltration of Inflammatory T Cell in Ovaries
胚発生の減少、卵巣卵胞の減少、卵巣への炎症性T細胞の浸潤
Zou, X., Zhang, Y., Wang, X., Zhang, R., & Yang, W. (2021). The role of AIRE deficiency in infertility and its potential pathogenesis. Frontiers in Immunology, 12, 641164.
2
ANOS1
Hypogonadotropic Hypogonadism 1
性腺刺激ホルモン分泌低下性性腺機能低下症1
Parenti, Giancarlo, et al. “Variable Penetrance of Hypogonadism in a Sibship with Kallmann Syndrome Due to a Deletion of the KAL Gene.” American Journal of Medical Genetics, vol. 57, no. 3, July 1995, pp. 476–78. DOI.org (Crossref), https://doi.org/10.1002/ajmg.1320570323.
3
BMP15
Ovarian Dysgenesis 2
卵巣形成不全2
Dixit, Hridesh, et al. “Missense Mutations in the BMP15 Gene Are Associated with Ovarian Failure.” Human Genetics, vol. 119, no. 4, May 2006, pp. 408–15. DOI.org (Crossref), https://doi.org/10.1007/s00439-006-0150-0
4
CAPN10
Polycystic Ovarian Syndrome (PCOS)
多嚢胞性卵巣症候群(PCOS)
Li, Y., Han, T., Wang, Y., Gao, J., Zhang, J., Wu, Y., & Luo, J. (2023). Association of Calpain10 polymorphisms with polycystic ovarian syndrome susceptibility: a systematic review and meta-analysis with trial sequential analysis. Frontiers in Genetics, 14, 1153960.
5
CHD7
Charge Syndrome; Genital Hypoplasia
チャージ症候群、性器低形成
Bergman, J. E. H., et al. “CHD7 Mutations and CHARGE Syndrome: The Clinical Implications of an Expanding Phenotype.” Journal of Medical Genetics, vol. 48, no. 5, May 2011, pp. 334–42. DOI.org (Crossref), https://doi.org/10.1136/jmg.2010.087106.
6
CYP11A1
Congenital Adrenal Insuffiency With 46
46, XY性別逆転または46, XY性分化異常を伴う先天性副腎不全(CYP11A1欠損による副腎不全)
Hiort, Olaf, et al. “Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure.” The Journal of Clinical Endocrinology & Metabolism, vol. 90, no. 1, Jan. 2005, pp. 538–41. DOI.org (Crossref), https://doi.org/10.1210/jc.2004-1059.
7
CYP17A1
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
17-α-ヒドロキシラーゼ欠損による先天性副腎過形成
Rosa, S., et al. “Clinical, Genetic and Functional Characteristics of Three Novel CYP17A1 Mutations Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency.” Hormone Research in Paediatrics, vol. 73, no. 3, 2010, pp. 198–204. DOI.org (Crossref), https://doi.org/10.1159/000284362.
8
CYP19A1
Aromatase Deficiency; Genital Ambiguity; Absent Pubertal Development
アロマターゼ欠損、性器不明瞭、思春期発達の欠如
Lin, Lin, et al. “Variable Phenotypes Associated with Aromatase ( CYP19 ) Insufficiency in Humans.” The Journal of Clinical Endocrinology & Metabolism, vol. 92, no. 3, Mar. 2007, pp. 982–90. DOI.org (Crossref), https://doi.org/10.1210/jc.2006-1181.
9
DENND1A
Polycystic Ovary Syndrome (PCOS)
多嚢胞性卵巣症候群(PCOS)
Samma, Z. H., Khan, H. N., Riffat, S., Ashraf, M., & Rehman, R. (2024). Unraveling the Genetic Associations of DENND1A (rs9696009) and ERBB4 (rs2178575) with Infertile Polycystic Ovary Syndrome Females in Pakistan. Biochemical Genetics, 62(3), 2148-2165.
10
DUSP6
Hypogonadotropic Hypogonadism 19
性腺刺激ホルモン分泌低下性性腺機能低下症19
Mkaouar, Rahma, et al. “Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.” Frontiers in Genetics, vol. 12, Sept. 2021, p. 665174. DOI.org (Crossref), https://doi.org/10.3389/fgene.2021.665174
11
EIF2B2
Ovarioleukodystrophy
卵巣白質ジストロフィー
Escobar-Pacheco, M., Luna-Álvarez, M., de Montellano, D. D. O., Yescas-Gómez, P., & Ramírez-García, M. Á. (2024). Ovarioleukodystrophy Due to EIF2B Genes: Systematic Review and Case Report. Cureus, 16(7).
12
EIF2B3
Ovarioleukodystrophy
卵巣白質ジストロフィー
Parihar, J., Vibha, D., Rajan, R., Pandit, A. K., Srivastava, A. K., & Prasad, K. (2022). Vanishing white matter disease presenting as dementia and infertility: a case report. Neurology: Genetics, 8(3), e643.
13
FEZF1
Hypogonadotropic Hypogonadism 22
性腺刺激ホルモン分泌低下性性腺機能低下症22
Kotan, L. Damla, et al. “Mutations in FEZF1 Cause Kallmann Syndrome.” The American Journal of Human Genetics, vol. 95, no. 3, Sept. 2014, pp. 326–31. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2014.08.006.
14
FGF8
Hypogonadotropic Hypogonadism 6
性腺刺激ホルモン分泌低下性性腺機能低下症6
Trarbach, Ericka B., et al. “Nonsense Mutations in FGF8 Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency.” The Journal of Clinical Endocrinology & Metabolism, vol. 95, no. 7, July 2010, pp. 3491–96. DOI.org (Crossref), https://doi.org/10.1210/jc.2010-0176.
15
FGF17
Hypogonadotropic Hypogonadism 20
性腺刺激ホルモン分泌低下性性腺機能低下症20
Amato, Lorena Guimaraes Lima, et al. “New Genetic Findings in a Large Cohort of Congenital Hypogonadotropic Hypogonadism.” European Journal of Endocrinology, vol. 181, no. 2, Aug. 2019, pp. 103–19. DOI.org (Crossref), https://doi.org/10.1530/EJE-18-0764.
16
FGFR1
Hypogonadotropic Hypogonadism 2
性腺刺激ホルモン分泌低下性性腺機能低下症2
Dodé, Catherine, et al. “Loss-of-Function Mutations in FGFR1 Cause Autosomal Dominant Kallmann Syndrome.” Nature Genetics, vol. 33, no. 4, Apr. 2003, pp. 463–65. DOI.org (Crossref), https://doi.org/10.1038/ng1122
17
FIGLA
Premature Ovarian Failure 6
早発卵巣不全6
Zhao, Han, et al. “Transcription Factor FIGLA Is Mutated in Patients with Premature Ovarian Failure.” The American Journal of Human Genetics, vol. 82, no. 6, June 2008, pp. 1342–48. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2008.04.018
18
FLRT3
Kallmann Syndrome
カルマン症候群
Miraoui, Hichem, et al. “Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism.” The American Journal of Human Genetics, vol. 92, no. 5, May 2013, pp. 725–43. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2013.04.008.
19
FMR1
Primary ovarian insufficiency (POI); Premature Ovarian Failure 1
原発性卵巣機能不全(POI)、早発卵巣不全1
Barasoain, M., Barrenetxea, G., Huerta, I., Télez, M., Criado, B., & Arrieta, I. (2016). Study of the genetic etiology of primary ovarian insufficiency: FMR1 gene. Genes, 7(12), 123.
20
FOXL2
Premature Ovarian Failure 3
早発卵巣不全3
Bouilly, Justine, et al. “Identification of Multiple Gene Mutations Accounts for a New Genetic Architecture of Primary Ovarian Insufficiency.” The Journal of Clinical Endocrinology & Metabolism, vol. 101, no. 12, Dec. 2016, pp. 4541–50. DOI.org (Crossref), https://doi.org/10.1210/jc.2016-2152.
21
FSHB
Hypogonadotropic Hypogonadism 24
性腺刺激ホルモン分泌低下性性腺機能低下症24
Kottler, Marie-Laure, et al. “A New FSHβ Mutation in a 29-Year-Old Woman with Primary Amenorrhea and Isolated FSH Deficiency: Functional Characterization and Ovarian Response to Human Recombinant FSH.” European Journal of Endocrinology, vol. 162, no. 3, Mar. 2010, pp. 633–41. DOI.org (Crossref), https://doi.org/10.1530/EJE-09-0648
22
FSHR
Ovarian Dysgenesis 1; Ovarian Dysgenesis 1
卵巣形成不全1
Desai, Swapna S., et al. “Mutations and Polymorphisms in FSH Receptor: Functional Implications in Human Reproduction.” REPRODUCTION, vol. 146, no. 6, Dec. 2013, pp. R235–48. DOI.org (Crossref), https://doi.org/10.1530/REP-13-0351.
23
GALT
Classic Galactosemia; Primary Ovarian Insufficiency (POI)
古典的ガラクトース血症、原発性卵巣機能不全(POI)
Colhoun, Hugh-Owen, et al. “Fertility in Classical Galactosaemia, a Study of N-Glycan, Hormonal and Inflammatory Gene Interactions.” Orphanet Journal of Rare Diseases, vol. 13, no. 1, Dec. 2018, p. 164. DOI.org (Crossref), https://doi.org/10.1186/s13023-018-0906-3
24
GDF9
Premature Ovarian Failure 14
早発卵巣不全14
França, M. M., et al. “Identification of the First Homozygous 1‐bp Deletion in GDF9 Gene Leading to Primary Ovarian Insufficiency by Using Targeted Massively Parallel Sequencing.” Clinical Genetics, vol. 93, no. 2, Feb. 2018, pp. 408–11. DOI.org (Crossref), https://doi.org/10.1111/cge.13156.
25
GNAS
Mccune-Albright Syndrome
マッキューン・オルブライト症候群
Agopiantz, M., Sorlin, A., Vabres, P., Leheup, B., Carmignac, V., Malaplate-Armand, C., ... & Gauchotte, G. (2021). Fertility in McCune Albright syndrome female: a case study focusing on AMH as a marker of ovarian dysfunction and a literature review. Journal of Gynecology Obstetrics and Human Reproduction, 50(9), 102171.
26
GNRH1
Hypogonadotropic Hypogonadism 12
性腺刺激ホルモン分泌低下性性腺機能低下症12
Bouligand, Jérôme, et al. “Isolated Familial Hypogonadotropic Hypogonadism and a GNRH1 Mutation.” New England Journal of Medicine, vol. 360, no. 26, June 2009, pp. 2742–48. DOI.org (Crossref), https://doi.org/10.1056/NEJMoa0900136
27
GNRHR
Hypogonadotropic Hypogonadism 7
性腺刺激ホルモン分泌低下性性腺機能低下症7
Shaw, Natalie D., et al. “Expanding the Phenotype and Genotype of Female GnRH Deficiency.” The Journal of Clinical Endocrinology & Metabolism, vol. 96, no. 3, Mar. 2011, pp. E566–76. DOI.org (Crossref), https://doi.org/10.1210/jc.2010-2292.
28
HESX1
Kallmann syndrome
カルマン症候群
Newbern, Kayce, et al. “Identification of HESX1 Mutations in Kallmann Syndrome.” Fertility and Sterility, vol. 99, no. 7, June 2013, pp. 1831–37. DOI.org (Crossref), https://doi.org/10.1016/j.fertnstert.2013.01.149
29
HS6ST1
Hypogonadotropic Hypogonadism 15
性腺刺激ホルモン分泌低下性性腺機能低下症15
Tornberg, Janne, et al. “Heparan Sulfate 6-O-Sulfotransferase 1 , a Gene Involved in Extracellular Sugar Modifications, Is Mutated in Patients with Idiopathic Hypogonadotrophic Hypogonadism.” Proceedings of the National Academy of Sciences, vol. 108, no. 28, July 2011, pp. 11524–29. DOI.org (Crossref), https://doi.org/10.1073/pnas.1102284108
30
IL17RD
Kallmann Syndrome
カルマン症候群
Miraoui, Hichem, et al. “Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism.” The American Journal of Human Genetics, vol. 92, no. 5, May 2013, pp. 725–43. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2013.04.008
31
INS
Insulin Resistance; Polycystic ovary syndrome (PCOS)
インスリン抵抗性、多嚢胞性卵巣症候群(PCOS)
Lei, Ruobing, et al. “Advances in the Study of the Correlation between Insulin Resistance and Infertility.” Frontiers in Endocrinology, vol. 15, Jan. 2024, p. 1288326. DOI.org (Crossref), https://doi.org/10.3389/fendo.2024.1288326
32
INSR
Polycystic ovary syndrome (PCOS)
多嚢胞性卵巣症候群(PCOS)
Daghestani M. H. (2020). RS1799817 in INSR associates with susceptibility to polycystic ovary syndrome. Journal of medical biochemistry, 39(2), 149–159. https://doi.org/10.2478/jomb-2019-0023
33
IRS1
Polycystic ovary syndrome (PCOS)
多嚢胞性卵巣症候群(PCOS)
Raad Helmi, Z., Nori, W., & Ghani Zghair, M. A. (2024). The Value IRS-1 rs1801278G> A Polymorphism Testing in Evaluating Infertile Women with Polycystic Ovarian Syndrome: A Case-control Study. Current Women's Health Reviews, 20(5), 98-107.
34
IRS2
Polycystic ovarian syndrome (PCOS)
多嚢胞性卵巣症候群(PCOS)
Shi, X., Xie, X., Jia, Y., & Li, S. (2016). Associations of insulin receptor and insulin receptor substrates genetic polymorphisms with polycystic ovary syndrome: A systematic review and meta-analysis. Journal of Obstetrics and Gynaecology Research, 42(7), 844–854. doi:10.1111/jog.13002
35
KISS1
Hypogonadotropic hypogonadism 13
性腺刺激ホルモン分泌低下性性腺機能低下症13
Topaloglu, A. Kemal, et al. “Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism.” New England Journal of Medicine, vol. 366, no. 7, Feb. 2012, pp. 629–35. DOI.org (Crossref), https://doi.org/10.1056/NEJMoa1111184.
36
KISS1R
Hypogonadotropic hypogonadism 8
性腺刺激ホルモン分泌低下性性腺機能低下症8
Teles, Milena Gurgel, et al. “A GPR54 -Activating Mutation in a Patient with Central Precocious Puberty.” New England Journal of Medicine, vol. 358, no. 7, Feb. 2008, pp. 709–15. DOI.org (Crossref), https://doi.org/10.1056/NEJMoa073443
37
LHB
Hypogonadotropic hypogonadism 23
性腺刺激ホルモン分泌低下性性腺機能低下症23
Arnhold, Ivo Jorge, et al. “Inactivating Mutations of Luteinizing Hormone β-Subunit or Luteinizing Hormone Receptor Cause Oligo-Amenorrhea and Infertility in Women.” Hormone Research in Paediatrics, vol. 71, no. 2, 2009, pp. 75–82. DOI.org (Crossref), https://doi.org/10.1159/000183895.
38
LHCGR
Luteinizing hormone resistance
黄体形成ホルモン抵抗性
Arnhold, Ivo Jorge, et al. “Inactivating Mutations of Luteinizing Hormone β-Subunit or Luteinizing Hormone Receptor Cause Oligo-Amenorrhea and Infertility in Women.” Hormone Research in Paediatrics, vol. 71, no. 2, 2009, pp. 75–82. DOI.org (Crossref), https://doi.org/10.1159/000183895.
39
NOBOX
Premature ovarian failure 5
早発卵巣不全5
Bouilly, Justine, et al. “New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression.” The Journal of Clinical Endocrinology & Metabolism, vol. 100, no. 3, Mar. 2015, pp. 994–1001. DOI.org (Crossref), https://doi.org/10.1210/jc.2014-2761.
40
NR5A1
Premature Ovarian Failure 7
早発卵巣不全7
Jiao, Xue, et al. “Novel NR5A1 Missense Mutation in Premature Ovarian Failure: Detection in Han Chinese Indicates Causation in Different Ethnic Groups.” PLoS ONE, edited by Qing-Yuan Sun, vol. 8, no. 9, Sept. 2013, p. e74759. DOI.org (Crossref), https://doi.org/10.1371/journal.pone.0074759
41
NSMF
Hypogonadotropic hypogonadism 9
性腺刺激ホルモン分泌低下性性腺機能低下症9
Quaynor, Samuel D., et al. “The Prevalence of Digenic Mutations in Patients with Normosmic Hypogonadotropic Hypogonadism and Kallmann Syndrome.” Fertility and Sterility, vol. 96, no. 6, Dec. 2011, pp. 1424-1430.e6. DOI.org (Crossref), https://doi.org/10.1016/j.fertnstert.2011.09.046.
42
POF1B
Premature ovarian failure 2B
早発卵巣不全2B
Lacombe, Arnaud, et al. “Disruption of POF1B Binding to Nonmuscle Actin Filaments Is Associated with Premature Ovarian Failure.” The American Journal of Human Genetics, vol. 79, no. 1, July 2006, pp. 113–19. DOI.org (Crossref), https://doi.org/10.1086/505406.
43
POLG
Non-syndromic Ovarian Dysfunction
非症候群性卵巣機能障害
Chen, B., et al. “Identification of the First Homozygous POLG Mutation Causing Non-Syndromic Ovarian Dysfunction.” Climacteric, vol. 21, no. 5, Sept. 2018, pp. 467–71. DOI.org (Crossref), https://doi.org/10.1080/13697137.2018.1467891.
44
PROK2
Hypogonadotropic hypogonadism 4
性腺刺激ホルモン分泌低下性性腺機能低下症4
Leroy, Chrystel, et al. “Biallelic Mutations in the Prokineticin-2 Gene in Two Sporadic Cases of Kallmann Syndrome.” European Journal of Human Genetics, vol. 16, no. 7, July 2008, pp. 865–68. DOI.org (Crossref), https://doi.org/10.1038/ejhg.2008.15
45
PROKR2
Hypogonadotropic hypogonadism 3
性腺刺激ホルモン分泌低下性性腺機能低下症3
Dodé, Catherine, et al. “Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2.” PLoS Genetics, edited by David Valle, vol. 2, no. 10, Oct. 2006, p. e175. DOI.org (Crossref), https://doi.org/10.1371/journal.pgen.0020175
46
PSMC3IP
Ovarian dysgenesis 3
卵巣形成不全3
Zangen, David, et al. “XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation That Abolishes Coactivation of Estrogen-Driven Transcription.” The American Journal of Human Genetics, vol. 89, no. 4, Oct. 2011, pp. 572–79. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2011.09.006.
47
SEMA3A
Hypogonadotropic hypogonadism 16
性腺刺激ホルモン分泌低下性性腺機能低下症16
Young, Jacques, et al. “SEMA3A Deletion in a Family with Kallmann Syndrome Validates the Role of Semaphorin 3A in Human Puberty and Olfactory System Development.” Human Reproduction, vol. 27, no. 5, May 2012, pp. 1460–65. DOI.org (Crossref), https://doi.org/10.1093/humrep/des022.
48
SPRY4
Hypogonadotropic hypogonadism 17
性腺刺激ホルモン分泌低下性性腺機能低下症17
Miraoui, Hichem, et al. “Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism.” The American Journal of Human Genetics, vol. 92, no. 5, May 2013, pp. 725–43. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2013.04.008
49
STAG3
Premature ovarian failure 8
早発卵巣不全8
Caburet, Sandrine, et al. “Mutant Cohesin in Premature Ovarian Failure.” New England Journal of Medicine, vol. 370, no. 10, Mar. 2014, pp. 943–49. DOI.org (Crossref), https://doi.org/10.1056/NEJMoa1309635.
50
TAC3
Hypogonadotropic Hypogonadism 7, 10
性腺刺激ホルモン分泌低下性性腺機能低下症7、10
Topaloglu, A. Kemal, et al. “TAC3 and TACR3 Mutations in Familial Hypogonadotropic Hypogonadism Reveal a Key Role for Neurokinin B in the Central Control of Reproduction.” Nature Genetics, vol. 41, no. 3, Mar. 2009, pp. 354–58. DOI.org (Crossref), https://doi.org/10.1038/ng.306
51
TACR3
Hypogonadotropic Hypogonadism 7, 10
性腺刺激ホルモン分泌低下性性腺機能低下症7、10
Topaloglu, A. Kemal, et al. “TAC3 and TACR3 Mutations in Familial Hypogonadotropic Hypogonadism Reveal a Key Role for Neurokinin B in the Central Control of Reproduction.” Nature Genetics, vol. 41, no. 3, Mar. 2009, pp. 354–58. DOI.org (Crossref), https://doi.org/10.1038/ng.306
52
THADA
Polycystic ovarian syndrome (PCOS)
多嚢胞性卵巣症候群(PCOS)
Naserpoor, L., Jannatifar, R., Roshanaei, K., Khoshandam, M., & Kallhor, N. (2022). Association of rs13429458 and rs12478601 Single Nucleotide Polymorphisms of THADA Gene with Polycystic Ovary Syndrome. International journal of fertility & sterility, 16(1), 36–41. https://doi.org/10.22074/IJFS.2021.524795.1090
53
WDR11
Kallmann syndrome
カルマン症候群
Kim, Yeon‐Joo, et al. “WDR11‐mediated Hedgehog Signalling Defects Underlie a New Ciliopathy Related to Kallmann Syndrome.” EMBO Reports, vol. 19, no. 2, Feb. 2018, pp. 269–89. DOI.org (Crossref), https://doi.org/10.15252/embr.201744632.
54
WT1
Premature Ovarian Failure (POF)
早発卵巣不全(POF)
Jedidi, Ines, et al. “Autosomal Single-Gene Disorders Involved in Human Infertility.” Saudi Journal of Biological Sciences, vol. 25, no. 5, July 2018, pp. 881–87. DOI.org (Crossref), https://doi.org/10.1016/j.sjbs.2017.12.005.
55
ZP1
Oocyte/zygote/embryo maturation arrest 1
卵母細胞/接合子/胚成熟停止1
Huang, Hua-Lin, et al. “Mutant ZP1 in Familial Infertility.” New England Journal of Medicine, vol. 370, no. 13, Mar. 2014, pp. 1220–26. DOI.org (Crossref), https://doi.org/10.1056/NEJMoa1308851
s/n
男性不妊症遺伝子パネル
Associated Reproductive Genetic Condition
関連する生殖遺伝病
文献
1
ANOS1
Kallmann Syndrome
カルマン症候群
Balasubramanian, R., & Crowley, W. F., Jr (2007). Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.
2
AR
Androgen Insensitivity Syndrome
アンドロゲン不応性症候群
Philibert, Pascal, et al. ‘Complete Androgen Insensitivity Syndrome Is Frequently Due to Premature Stop Codons in Exon 1 of the Androgen Receptor Gene: An International Collaborative Report of 13 New Mutations’. Fertility and Sterility, vol. 94, no. 2, July 2010, pp. 472–76. DOI.org (Crossref), https://doi.org/10.1016/j.fertnstert.2009.03.057.
3
AURKC
Macrozoospermia
巨精子症
Ben Khelifa, M., Zouari, R., Harbuz, R., Halouani, L., Arnoult, C., Lunardi, J., & Ray, P. F. (2011). A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis. Molecular human reproduction, 17(12), 762–768. https://doi.org/10.1093/molehr/gar050
4
CATSPER1
CATSPER1-Related Nonsyndromic Male Infertility
CATSPER1 関連の非症候性男性不妊症
Jalalabadi, F. N., Cheraghi, E., Janatifar, R., & Momeni, H. R. (2024). The Detection of CatSper1 and CatSper3 Expression in Men with Normozoospermia and Asthenoteratozoospermia and Its Association with Sperm Parameters, Fertilization Rate, Embryo Quality. Reproductive sciences (Thousand Oaks, Calif.), 31(3), 704–713. https://doi.org/10.1007/s43032-023-01397-4
5
CFTR
Congenital bilateral absence of the vas deferens
先天性両側精管欠損症
Cuppens, H., & Cassiman, J. J. (2004). CFTR mutations and polymorphisms in male infertility. International journal of andrology, 27(5), 251–256. https://doi.org/10.1111/j.1365-2605.2004.00485.x
6
CHD7
Kallmann syndrome; CHARGE syndrome
カルマン症候群、CHARGE 症候群
Jongmans, M. C. J., van Ravenswaaij‐Arts, C. M. A., Pitteloud, N., Ogata, T., Sato, N., Claahsen‐van der Grinten, H. L., ... & Hoefsloot, L. H. (2009). CHD7 mutations in patients initially diagnosed with Kallmann syndrome–the clinical overlap with CHARGE syndrome. Clinical genetics, 75(1), 65-71.
7
DAZL
Atypical Spermatogenesis
非典型精子形成
Nailwal, M., & Chauhan, J. B. (2017). In silico analysis of non-synonymous single nucleotide polymorphisms in human DAZL gene associated with male infertility. Systems Biology in Reproductive Medicine, 63(4), 248–258. https://doi.org/10.1080/19396368.2017.1305466
8
DDX25
Impaired Spermatogenesis
精子形成障害
Tsai‐Morris, Chon‐Hwa, et al. ‘Gonadotropin‐Regulated Testicular RNA Helicase (GRTH/DDX25): A Multifunctional Protein Essential for Spermatogenesis’. Journal of Andrology, vol. 31, no. 1, Jan. 2010, pp. 45–52. DOI.org (Crossref), https://doi.org/10.2164/jandrol.109.008219.
9
DUSP6
Congenital Hypogonadotropic Hypogonadism
先天性低ゴナドトロピン性性腺機能低下症
Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., ... & Pitteloud, N. (2013). Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. The American Journal of Human Genetics, 92(5), 725-743.
10
FEZF1
Hypogonadotropic hypogonadism 22
低ゴナドトロピン性性腺機能低下症 22
Kotan, L. Damla, et al. ‘Mutations in FEZF1 Cause Kallmann Syndrome’. The American Journal of Human Genetics, vol. 95, no. 3, Sept. 2014, pp. 326–31. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2014.08.006.
11
FGF8
Hypogonadotropic hypogonadism 6
低ゴナドトロピン性性腺機能低下症 6
Arauz, R. F., et al. ‘A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans’. Molecular Syndromology, vol. 1, no. 2, 2010, pp. 59–66. DOI.org (Crossref), https://doi.org/10.1159/000302285.
12
FGF17
Hypogonadotropic Hypogonadism; Kallmann Syndrome
低ゴナドトロピン性性腺機能低下症カルマン症候群
Amato, Lorena Guimaraes Lima, et al. ‘New Genetic Findings in a Large Cohort of Congenital Hypogonadotropic Hypogonadism’. European Journal of Endocrinology, vol. 181, no. 2, Aug. 2019, pp. 103–19. DOI.org (Crossref), https://doi.org/10.1530/EJE-18-0764
13
FGFR1
Hypogonadotropic hypogonadism 2
低ゴナドトロピン性性腺機能低下症 2
Simonis, Nicolas, et al. ‘FGFR1 Mutations Cause Hartsfield Syndrome, the Unique Association of Holoprosencephaly and Ectrodactyly’. Journal of Medical Genetics, vol. 50, no. 9, Sept. 2013, pp. 585–92. DOI.org (Crossref), https://doi.org/10.1136/jmedgenet-2013-101603
14
FLRT3
Hypogonadotropic hypogonadism 21
低ゴナドトロピン性性腺機能低下症 21
Miraoui, Hichem, et al. ‘Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism’. The American Journal of Human Genetics, vol. 92, no. 5, May 2013, pp. 725–43. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2013.04.008
15
FMR1
Fragile X Syndrome
脆弱X症候群
Gu, F., Zhang, H.-Y., Hu, S.-Y., Huang, S.-Z., Ma, X., & Zhang, Y.-Q. (2006). Erectile dysfunction in Fragile X patients. Asian Journal of Andrology, 8(4), 483–487. doi:10.1111/j.1745-7262.2006.00156.x
16
FSHB
Hypogonadotropic hypogonadism 24
低ゴナドトロピン性性腺機能低下症 24
Lofrano-Porto, Adriana, et al. ‘Effects of Follicle-Stimulating Hormone and Human Chorionic Gonadotropin on Gonadal Steroidogenesis in Two Siblings with a Follicle-Stimulating Hormone β Subunit Mutation’. Fertility and Sterility, vol. 90, no. 4, Oct. 2008, pp. 1169–74. DOI.org (Crossref), https://doi.org/10.1016/j.fertnstert.2007.07.1356.
17
FSHR
DNA fragmentation in sperm
精子のDNA断片化
Zhylkova, I., Feskov, O., & Fedota, O. (2016). FSHR gene polymorphisms causes male infertility. Open Journal of Genetics, 6(1), 1-8.
18
GNRH1
Hypogonadotropic hypogonadism 12
低ゴナドトロピン性性腺機能低下症 12
Chan, Yee-Ming. ‘A Needle in a Haystack: Mutations in GNRH1 as a Rare Cause of Isolated GnRH Deficiency’. Molecular and Cellular Endocrinology, vol. 346, no. 1–2, Oct. 2011, pp. 51–56. DOI.org (Crossref), https://doi.org/10.1016/j.mce.2011.06.013.
19
GNRHR
Hypogonadotropic Hypogonadism 7, 23
低ゴナドトロピン性性腺機能低下症 7, 23
Stewart, M. David, et al. ‘Mice Harboring Gnrhr E90K, a Mutation That Causes Protein Misfolding and Hypogonadotropic Hypogonadism in Humans, Exhibit Testis Size Reduction and Ovulation Failure’. Molecular Endocrinology, vol. 26, no. 11, Nov. 2012, pp. 1847–56. DOI.org (Crossref), https://doi.org/10.1210/me.2012-1072
20
HESX1
Kallmann syndrome
カルマン症候群
Newbern, Kayce, et al. ‘Identification of HESX1 Mutations in Kallmann Syndrome’. Fertility and Sterility, vol. 99, no. 7, June 2013, pp. 1831–37. DOI.org (Crossref), https://doi.org/10.1016/j.fertnstert.2013.01.149.
21
HS6ST1
Hypogonadotropic hypogonadism 15
低ゴナドトロピン性性腺機能低下症 15
Tornberg, Janne, et al. ‘Heparan Sulfate 6-O-Sulfotransferase 1 , a Gene Involved in Extracellular Sugar Modifications, Is Mutated in Patients with Idiopathic Hypogonadotrophic Hypogonadism’. Proceedings of the National Academy of Sciences, vol. 108, no. 28, July 2011, pp. 11524–29. DOI.org (Crossref), https://doi.org/10.1073/pnas.1102284108
22
IL17RD
Kallmann Syndrome
「カルマン症候群」
Miraoui, Hichem, et al. ‘Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism’. The American Journal of Human Genetics, vol. 92, no. 5, May 2013, pp. 725–43. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2013.04.008
23
KISS1
Hypogonadotropic hypogonadism 13
低ゴナドトロピン性性腺機能低下症 13
Topaloglu, A. Kemal, et al. ‘Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism’. New England Journal of Medicine, vol. 366, no. 7, Feb. 2012, pp. 629–35. DOI.org (Crossref), https://doi.org/10.1056/NEJMoa1111184
24
KISS1R
Hypogonadotropic Hypogonadism 8
低ゴナドトロピン性性腺機能低下症 8
Teles, Milena Gurgel, et al. ‘A GPR54 -Activating Mutation in a Patient with Central Precocious Puberty’. New England Journal of Medicine, vol. 358, no. 7, Feb. 2008, pp. 709–15. DOI.org (Crossref), https://doi.org/10.1056/NEJMoa073443.
25
LHB
Hypogonadotropic hypogonadism 23
低ゴナドトロピン性性腺機能低下症 23
Basciani, Sabrina, et al. ‘Hypogonadism in a Patient with Two Novel Mutations of the Luteinizing Hormone β-Subunit Gene Expressed in a Compound Heterozygous Form’. The Journal of Clinical Endocrinology & Metabolism, vol. 97, no. 9, Sept. 2012, pp. 3031–38. DOI.org (Crossref), https://doi.org/10.1210/jc.2012-1986
26
LHCGR
Familial Male-Limited Precocious Puberty
家族性男性限定性早発思春期
Latronico, Ana, and Ivo Arnhold. ‘Inactivating Mutations of the Human Luteinizing Hormone Receptor in Both Sexes’. Seminars in Reproductive Medicine, vol. 30, no. 05, Oct. 2012, pp. 382–86. DOI.org (Crossref), https://doi.org/10.1055/s-0032-1324721
27
NR5A1
Gonadal Dysgenesis
性腺形成不全
Werner, Ralf, et al. ‘New NR5A1 Mutations and Phenotypic Variations of Gonadal Dysgenesis’. PLOS ONE, edited by Daniel J. Bernard, vol. 12, no. 5, May 2017, p. e0176720. DOI.org (Crossref), https://doi.org/10.1371/journal.pone.0176720.
28
NSMF
Hypogonadotropic hypogonadism 9
低ゴナドトロピン性性腺機能低下症 9
Xu, Ning, et al. ‘Nasal Embryonic LHRH Factor (NELF) Mutations in Patients with Normosmic Hypogonadotropic Hypogonadism and Kallmann Syndrome’. Fertility and Sterility, vol. 95, no. 5, Apr. 2011, pp. 1613-1620.e7. DOI.org (Crossref), https://doi.org/10.1016/j.fertnstert.2011.01.010.
29
PRM1
Dysfunctional Spermatogenesis
機能不全精子形成
Nemati, H., Sadeghi, M., Nazeri, M. et al. Evaluation of the association between polymorphisms of PRM1 and PRM2 and the risk of male infertility: a systematic review, meta-analysis, and meta-regression. Sci Rep 10, 17228 (2020). https://doi.org/10.1038/s41598-020-74233-3
30
PROK2
Kallmann Syndrome; Hypogonadotropic hypogonadism 4
カルマン症候群; 低ゴナドトロピン性性腺機能低下症 4
Pitteloud, Nelly, et al. ‘Loss-of-Function Mutation in the Prokineticin 2 Gene Causes Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism’. Proceedings of the National Academy of Sciences, vol. 104, no. 44, Oct. 2007, pp. 17447–52. DOI.org (Crossref), https://doi.org/10.1073/pnas.0707173104
31
PROKR2
Kallmann Syndrome; Hypogonadotropic hypogonadism 3
カルマン症候群;低ゴナドトロピン性性腺機能低下症 3
Dodé, Catherine, et al. ‘Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2’. PLoS Genetics, edited by David Valle, vol. 2, no. 10, Oct. 2006, p. e175. DOI.org (Crossref), https://doi.org/10.1371/journal.pgen.0020175.
32
SEMA3A
Hypogonadotropic hypogonadism 16
低ゴナドトロピン性性腺機能低下症 16
Young, Jacques, et al. ‘SEMA3A Deletion in a Family with Kallmann Syndrome Validates the Role of Semaphorin 3A in Human Puberty and Olfactory System Development’. Human Reproduction, vol. 27, no. 5, May 2012, pp. 1460–65. DOI.org (Crossref), https://doi.org/10.1093/humrep/des022.
33
SPRY4
Hypogonadotropic hypogonadism 17
低ゴナドトロピン性性腺機能低下症 17
Miraoui, Hichem, et al. ‘Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism’. The American Journal of Human Genetics, vol. 92, no. 5, May 2013, pp. 725–43. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2013.04.008.
34
SRD5A1
Prostatic underdevelopment
前立腺発育不全
Dubey, A. (2012). Infertility Diagnosis, Management and IVF. JP Medical Ltd., Page 134
35
SRY
46,XX Testicular Disorder Of Sex Development; Swyer Syndrome
46,XX 精巣性発達障害; スワイヤー症候群
Délot, E. C., & Vilain, E. J. (2003). Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.
36
TAC3
Hypogonadotropic Hypogonadism 7, 10
低ゴナドトロピン性性腺機能低下症 7, 10
Gianetti, Elena, et al. ‘TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood’. The Journal of Clinical Endocrinology & Metabolism, vol. 95, no. 6, June 2010, pp. 2857–67. DOI.org (Crossref), https://doi.org/10.1210/jc.2009-2320.
37
TACR3
Hypogonadotropic Hypogonadism 7, 11
低ゴナドトロピン性性腺機能低下症 7, 11
Gianetti, Elena, et al. ‘TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood’. The Journal of Clinical Endocrinology & Metabolism, vol. 95, no. 6, June 2010, pp. 2857–67. DOI.org (Crossref), https://doi.org/10.1210/jc.2009-2320.
38
USP26
Asthenoteratozoospermia
無力奇形精子症
Liu, Chunyu, et al. ‘Deficiency of Primate-Specific SSX1 Induced Asthenoteratozoospermia in Infertile Men and Cynomolgus Monkey and Tree Shrew Models’. The American Journal of Human Genetics, vol. 110, no. 3, Mar. 2023, pp. 516–30. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2023.01.016.
39
USP9Y
Spermatogenic failure
精子形成不全
Foresta, C. ‘Deletion and Expression Analysis of AZFa Genes on the Human Y Chromosome Revealed a Major Role for DBY in Male Infertility’. Human Molecular Genetics, vol. 9, no. 8, May 2000, pp. 1161–69. DOI.org (Crossref), https://doi.org/10.1093/hmg/9.8.1161.
40
WDR11
Kallmann syndrome; Hypogonadotropic Hypogonadism 14
カルマン症候群; 低ゴナドトロピン性性腺機能低下症 14
Kim, Hyung-Goo, et al. ‘WDR11, a WD Protein That Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome’. The American Journal of Human Genetics, vol. 87, no. 4, Oct. 2010, pp. 465–79. DOI.org (Crossref), https://doi.org/10.1016/j.ajhg.2010.08.018.
参考文献
- Taylor A. (2003). ABC of subfertility: extent of the problem. BMJ (Clinical research ed.), 327(7412), 434–436. doi: 10.1136/bmj.327.7412.434
- Yatsenko, Svetlana A., and Aleksandar Rajkovic. ‘Genetics of Human Female Infertility†’. Biology of Reproduction, vol. 101, no. 3, Sept. 2019, pp. 549–66. DOI.org (Crossref), https://doi.org/10.1093/biolre/ioz084.
- Chihara, M., Yoshihara, K., Ishiguro, T., Yokota, Y., Adachi, S., Okada, H., Kashima, K., Sato, T., Tanaka, A., Tanaka, K., & Enomoto, T. (2015). Susceptibility to male infertility: replication study in Japanese men looking for an association with four GWAS-derived loci identified in European men. Journal of assisted reproduction and genetics, 32(6), 903–908. doi: 10.1007/s10815-015-0468-4
- Krausz, Csilla. ‘Male Infertility: Pathogenesis and Clinical Diagnosis’. Best Practice & Research Clinical Endocrinology & Metabolism, vol. 25, no. 2, Apr. 2011, pp. 271–85. DOI.org (Crossref), doi: 10.1016/j.beem.2010.08.006.
- Carrier Screening for Genetic Conditions. https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2017/03/carrier-screening-for-genetic-conditions.
- Girardi, Guillermina, et al. “The Complement System in the Pathophysiology of Pregnancy.” Molecular Immunology, vol. 43, no. 1–2, Jan. 2006, pp. 68–77. DOI.org (Crossref), https://doi.org/10.1016/j.molimm.2005.06.017.
- Talbot, Laura, and Kirsty Maclennan. “Physiology of Pregnancy.” Anaesthesia & Intensive Care Medicine, vol. 17, no. 7, July 2016, pp. 341–45. DOI.org (Crossref), https://doi.org/10.1016/j.mpaic.2016.04.010.
- Lee, S. R., Lee, T. H., Song, S. H., Kim, D. S., Choi, K. H., Lee, J. H., & Kim, D. K. (2021). Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology. Clinical and experimental reproductive medicine, 48(4), 283–294. doi: 10.5653/cerm.2021.04476
- Schlegel PN, Sigman M, Collura B, De Jonge CJ, Eisenberg ML, Lamb DJ, et al. Diagnosis and treatment of infertility in men: AUA/ASRM guideline part I. Fertil Steril. 2021;115:54–61. doi: 10.1016/j.fertnstert.2020.11.015.
- Jungwirth A, Giwercman A, Tournaye H, Diemer T, Kopa Z, Dohle G, et al. European Association of Urology guidelines on male infertility: the 2012 update. Eur Urol. 2012;62:324–32. doi: 10.1016/j.eururo.2012.04.048.
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¥99,000(税込)
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【カップル用・劣性遺伝検査の遺伝子検査】 Gene-Checker-Carrier check(couple)(劣性遺伝)ジーンチェッカー two persons(2人用)医師監修 遺伝子検査キット
¥264,000(税込)
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【劣性遺伝検査の遺伝子検査】 Gene-Checker-Carrier check(single)(劣性遺伝)ジーンチェッカー one person(1人用) 医師監修 遺伝子検査キット
¥220,000(税込)