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Clinically Recognized Syndromes Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to the main genetic syndromes which phenotypes can be clinically recognizable. This test provides the clinical geneticist with a tool for the rapid molecular confirmation of common clinical diagnoses. The panel includes genes related to Adams-Oliver, Albinism, X-linked alpha-thalassemia/DI, Aniridia, Distal Arthrogryposis, Bardet-Biedl, CHARGE, Cockayne, Coffin-siris, Progeria and Progeroid Syndromes, Pseudohypoparathyroidism (Albright hereditary osteodystrophy), 3M Syndrome, Acrocallosal Syndrome, Aarskog Syndrome, Alagille Syndrome, Alstrom Syndrome, Bannayan-Riley-Ruvalcaba-Smith Syndrome, Baraitser-Winter Syndrome, Blepharophimosis Syndrome, Ptosis and Inverse Epicanthus (BPES), Bloom Syndrome, Bohring-Opitz Syndrome, Cantu Syndrome, Cohen Syndrome, Cornelia de Lange Syndrome, EEC Syndrome, Floating-Harbor Syndrome, Freeman-Sheldon Syndrome, Gorlin Syndrome, Holt Oram Syndrome, Johanson-Blizzard Syndrome, Kabuki Syndrome, Kleefstra Syndrome, Loyes-Dietz Syndrome, Lujan-Fryns Syndrome, Marfan Syndrome and other conditions associated to FBN1 gene, Marshall-Smith Syndrome, Miller Syndrome, Mowat-Wilson Syndrome, Myhre Syndrome, Nager Syndrome, Nicolaides-Baraitser Syndrome, Noonan Syndrome and other rasopathies, Opitz C Syndrome (Optiz Trigonocephaly), Opitz G/BBB Syndrome, Pitt-Hopkins Syndrome, Ritscher-Schinzel Syndrome (3C), Robinow Syndrome, Rothmund-Thomson Syndrome, Rubinstein-Taybi Syndrome, Say-Barber-Biesecker-Young-Simpson Syndrome (SBBYSS), Schinzel-Giedion Syndrome, Schwarz-Jampel Syndrome, Seckel Syndrome, Sheldon-Hall Syndrome, Shprintzen-Goldberg Syndrome, Simpson-Golabi Syndrome, Smith-Lemli-Opitz Syndrome, Sotos Syndrome, Townes-Brockes Syndrome, Treacher-Collins Syndrome, Nail-patella Syndrome, Van der Woude Syndrome, Waardenburg Syndrome, Weaver Syndrome, Wiedemann-Steiner Syndrome, Multiple pterygium syndrome, Duane-radial ray syndrome (Okihiro), FG Syndrome (Opitz-Kaveggia), KBG Syndrome, TAR Syndrome and Trichorhinophalangeal Syndrome.

Genes Analisados:

A2ML1 ABCC9 ACTB ACTG1 ALMS1 ANKRD11 AP3B1 AP3D1 ARHGAP31 ARID1A ARID1B ARID2 ARL6 ARL6IP1 ASXL1 ATR ATRX BANF1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BLM BLOC1S3 BLOC1S6 BRAF CBL CCDC65 CCDC8 CCDC88A CCDC88C CDC6 CDT1 CENPJ CEP152 CEP290 CEP63 CHD7 CHRNG CNTNAP2 CREBBP CUL7 DHCR7 DHODH DLL4 DOCK6 DTNBP1 DVL1 DVL3 EDN3 EDNRB EHMT1 ELP4 EOGT EP300 EPG5 ERCC6 ERCC6L2 ERCC8 EYA1 EZH2 FBN1 FBN2 FGD1 FOXL2 GATA3 GCM2 GLE1 GNAS GPC3 GPR143 GRHL3 HDAC8 HNF1A HNF1B HPS1 HPS3 HPS4 HPS5 HPS6 HRAS HSPG2 IFT27 IRF6 JAG1 KAT6B KDM6A KIF7 KIFBP KIT KITLG KMT2A KMT2C KMT2D KRAS KRIT1 LMNA LMX1B LRMDA LYST LZTFL1 LZTR1 MAP2K1 MAP2K2 MATR3 MED12 MID1 MITF MKKS MKS1 MLPH MYBPC1 MYH3 MYH8 MYO5A NF1 NFIX NIN NIPBL NOTCH1 NOTCH2 NRAS NRXN1 NSD1 NSMCE2 OBSL1 OCA2 OFD1 ORC1 ORC4 ORC6 PAX3 PAX6 PHF6 PIEZO2 POLR1B POLR1C POLR1D PPP1CB PSMC3IP PTCH1 PTCH2 PTEN PTH PTH1R PTHLH PTPN11 RAB27A RAD21 RAF1 RAI1 RASA1 RASA2 RBBP8 RBM8A RBPJ RECQL4 RIT1 RNF113A RNF125 RNF168 RNF170 ROR2 RPS6KA3 RRAS SALL1 SALL4 SDCCAG8 SERPINF1 SETBP1 SF3B4 SHOC2 SIX5 SKI SKIC2 SLC24A5 SLC25A24 SLC45A2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SNAI2 SOS1 SOS2 SOX10 SPECC1L SPRED1 SRCAP STX16 SUFU TBCE TBX5 TCF4 TCOF1 TFAP2A TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM67 TNNI2 TNNT3 TP63 TPM2 TRAIP TRIM32 TRIT1 TRPS1 TTC8 TYR TYROBP TYRP1 UBR1 VIPAS39 VKORC1 VPS13B VPS33B WASHC5 WDPCP WNT5A WRN ZEB2 ZMPSTE24 ZNF141 ZNF148

Principais Doenças Analisadas Nesse Exame:

Adams-Oliver, Albinism, X-linked alpha-thalassemia/DI, Aniridia, Distal Arthrogryposis, Bardet-Biedl, CHARGE, Cockayne, Coffin-siris, Progeria and Progeroid Syndromes, Pseudohypoparathyroidism, 3M Syndrome, Acrocallosal Syndrome, Aarskog Syndrome, Alagille Syndrome, Alstrom Syndrome, Bannayan-Riley-Ruvalcaba-Smith Syndrome, Baraitser-Winter Syndrome, Blepharophimosis Syndrome, Ptosis and Inverse Epicanthus, Bloom Syndrome, Bohring-Opitz Syndrome, Cantu Syndrome, Cohen Syndrome, Cornelia de Lange Syndrome, EEC Syndrome, Floating-Harbor Syndrome, Freeman-Sheldon Syndrome, Gorlin Syndrome, Holt Oram Syndrome, Johanson-Blizzard Syndrome, Kabuki Syndrome, Kleefstra Syndrome, Loyes-Dietz Syndrome, Lujan-Fryns Syndrome, Marfan Syndrome and other conditions associated to FBN1 gene, Marshall-Smith Syndrome, Miller Syndrome, Mowat-Wilson Syndrome, Myhre Syndrome, Nager Syndrome, Nicolaides-Baraitser Syndrome, Noonan Syndrome and Rasopathies, Opitz C Syndrome (Optiz Trigonocephaly), Opitz GBBB Syndrome, Pitt-Hopkins Syndrome, Ritscher-Schinzel Syndrome (Sd 3C), Robinow Syndrome, Rothmund-Thomson Syndrome, Rubinstein-Taybi Syndrome, Say-Barber-Biesecker-Young-Simpson Syndrome (SBBYSS), Schinzel-Giedion Syndrome, Schwarz-Jampel Syndrome, Seckel Syndrome, Sheldon-Hall Syndrome, Shprintzen-Goldberg Syndrome, Simpson-Golabi Syndrome, Smith-Lemli-Opitz Syndrome, Sotos Syndrome, Townes-Brockes Syndrome, Treacher-Collins Syndrome, Nail-patella Syndrome, Van der Woude Syndrome, Waardenburg Syndrome, Weaver Syndrome, Wiedemann-Steiner Syndrome, Multiple pterygium syndrome, Duane-radial ray syndrome (Okihiro), FG Syndrome (Opitz-Kaveggia), KBG Syndrome, TAR Syndrome and Trichorhinophalangeal Syndrome

Outros Nomes Para Esse Exame:

Analysis of syndrome-related gene mutations, Genes related to syndromes, Clinically recognizable syndromes panel

Especialidades:
Fale Conosco
Tempo estimado de entrega do resultado:
28 dias

Como funciona?

SOLICITAÇÃO

Solicite o kit de coleta pelo formulário de contato ou pelo e-mail contato@mendelics.com

COLETA

Realize a coleta em casa (Swab bucal) ou em um laboratório (Sangue em EDTA)

ENVIO

Envie o material coletado para nosso laboratório

RESULTADO

Acompanhe o andamento em tempo real e acesse o resultado do exame pela internet

How does it work?

REQUEST

Request the collection kit by using the contact form or sent an e-mail to contato@mendelics.com

COLLECTION

Collect saliva at home (Oral swab) or blood in a laboratory (EDTA tube)

DELIVERY

Send the collected sample to our laboratory

RESULT

Check the progress in real time and access the tests results online

¿Como funciona?

SOLICITUD

Solicite el kit de toma de muestra por medio del formulario o por el emailcontato@mendelics.com

TOMA DE MUESTRA

Realice la toma de muestra en casa (swab bucal) o en el laboratorio.

ENVIO

Envíe el material para nuestro laboratorio.

RESULTADO

Acompaña el proceso en tiempo real y acceda al resultado por internet

Como Solicitar o Kit?

Tenha o pedido médico em mãos;
Entre em contato conosco e informe o exame a ser realizado;
Escolha a forma de pagamento;
Receba o Kit de coleta em casa;

Solicitar Kit de Coleta

How to Request the Kit?

With a medical prescription;
Contact us and inform the exam to be conducted;
Choose payment option;
Receive the collection Kit at home.

Request Collection Kit

¿Cómo solicitar el Kit?

Tenga a la mano la orden médica;
Entre en contacto con nosotros e informe el examen a ser realizado;
Escoja la forma de pago;
Reciba el kit de toma de muestra en casa;

Solicitar el kit de toma de muestra

Coleta Presencial

Pacientes que se encontram em São Paulo também têm a opção de realizar o exame no próprio laboratório da Mendelics.

Collection at the lab

Patients in São Paulo also have the option to perform the test at Mendelics.

Toma de Muestra Presencial

Los pacientes que se encuentran en São Paulo también tienen la opción de realizar el examen en el laboratorio Mendelics.

Tem alguma dúvida?

Encontre as respostas para as dúvidas mais frequentes que temos para te ajudar a realizar o seu exame.

Saiba Mais

Do you have any doubts?

Find answers for frequently asked questions we selected to assist you.

Learn more

¿Tiene alguna duda?

Encuentre las respuestas de las dudas más frecuentes que tenemos para ayudarle a realizar su examen.

Sepa más

Entre em contato conosco

Contact us

Hable con nosotros

Mendelics es pionero y líder en secuenciación de nueva generación (NGS) en América Latina.

Es el único laboratorio de base genómica que obtiene acreditaciones por CAP (American College of Pathologists – # 8671464), por la Coordinación General de Acreditación de Inmetro de acuerdo con ABNT NBR ISO 15189, bajo el número CLC 0007 y por PALC (Programa de Acreditación para Laboratorios Clínicos – # 32290508).

Mendelics is a pioneer and leader in New Generation Sequencing (NGS) in Latin America.

It is the only genomically based laboratory to obtain accreditations by CAP (American College of Pathologists – # 8671464), by Inmetro’s General Coordination for Accreditation in accordance with ABNT NBR ISO 15189, under the number CLC 0007 and by PALC (Program for Accreditation of Clinical Laboratories – # 32290508).

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                  Llámanos al (11) 5096-6001 o completa la información a continuación para que Mendelics pueda contactarse contigo para confirmar tu pedido del examen y aclarar cualquier duda sobre indicaciones, métodos, requisitos y precios.

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