DNA TESTING

In addition to DNA tests performed in our center they are conducted various DNA testing to identify genetic diseases through collaboration with institutions with great scientific experience and prestige in the United States and Germany.

1. 9 frequently mitochondrial mutations panel
2. Aarskog Scott syndrome (FGD1) 305400
3. Acute Myeloid (or Myelogenous) Leukemia 601626
4. Allan-Herndon-Dudley syndrome (SLC16A2) 300523
5. Alpha-thalassemia/intellectual disability syndrome (ATRX) 613985
6. Amyotrophic lateral sclerosis (Lou Gehrig disease) (C9ORF72) 606070
7. Aneurysm osteoarthritis syndrome (SMAD3) 613795
8. Angelman syndrome (UBE3A) 105830
9. Angelman-like syndrome/Christianson type (SLC9A6) 300243
10. Angelman/Angelman-like syndrome panel
11. Ankylosing spondylitis (HLA-B27). Genotyping by PCR 106300
12. Aortic valve disease (NOTCH1) 109730
13. Apert syndrome (FGFR2) 101200
14. ARX (aristaless related homeobox) 300382
15. Ashkenazi Jewish panel
16. Asperger syndrome (GDI1) 300494 300497
17. Autism/Autism spectrum disorder (53 gene panel) 209850
18. Autism (with macrocephaly) (PTEN)
19. Autism/Intellectual disability/seizures (ARX, SCN1A, CDKL5/STK9)
20. Azoospermia (SYCP3) 270960
21. Bannayan-Riley-Ruvalcaba syndrome (PTEN) 153480
22. BCR/ABL (Philadelphia chromosome) 608232
23. Beals syndrome (FBN2) 121050
24. Bloom syndrome 210900
25. Borjeson-Forssman-Lehmann syndrome (PHF6) 301900
26. Branchio-oculo-facial syndrome (TFAP2A) 113620
27. BRCA1/2 (Breast cancer) 604370  612555
28. C9ORF72-related neurodegenerative disease 105550
29. CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (NOTCH3)  125310
30. Canavan disease 27190
31. Cardiofaciocutaneous syndrome 115150
32. Cardiomyopathy (65 gene panel)
33. Celiac disease (HLA-DQA1*05, HLA-DQB1*02, HLA-DQB1*03:02) 212750
34. Charcot-Marie-Tooth disease, type 1A/HNPP (PMP22) 118220
35. Charcot-Marie-Tooth disease, types 1B, 2I, 2J (MPZ) 607736
36. CHARGE syndrome (CHD7) 214800
37. Chronic progressive external ophthalmoplegia (CPEO)
38. Chudley-Lowry syndrome (ATRX) 309580
39. Coffin-Lowry syndrome (RSK2/RPS6KA3) 303600
40. Congenital bilateral absence of the vas deferens (CBAVD) 277180
41. Congenital contractural arachnodactyly (FBN2) 121050
42. Congenital hypothyroidism (PAX8, FOXE1)
43. CONNECT 1 panel/22 genes (Connective tissue disorders DNA sequencing chip)
44. Connexin 26
45. Connexin 30 deletion (nonsyndromic deafness)
46. Costello syndrome (HRAS, KRAS, BRAF) 218040
47. Cowden syndrome (PTEN) 158350
48. Creatine (transporter) deficiency (SLC6A8) 300352
49. CTRC-Related Hereditary Pancreatitis 167800
50. Cystic fibrosis (CFTR) 219700
51. Deafness, nonsyndromic (Cx-30 deletion, Cx-26 sequencing)
52. Deafness, mitochondrial (A1555G mutation)
53. Dentatorubral-pallidoluysian atrophy (DRPLA)
54. Duchenne or Becker muscular dystrophy (DMD) 310200 300376
55. Dysplastic nevus syndrome (CDKN2A) 155600
56. Ehlers-Danlos syndrome type I/II (COL5A1, COL5A2) 130000
57. Ehlers-Danlos syndrome type IV (COL3A1)
58. Ehlers-Danlos syndrome type VII (COL1A1, COL1A2)
59. Ehlers-Danlos variant with periventricular heterotopia (FLNA) 130050
60. Epilepsy, female restricted (PCDH19) 300088
61. Exome
62. Eye disorder comprehensive sequencing panel (210 gene)
63. Faciogenital dysplasia (FGD1) 305400
64. Factor XI deficiency 612416
65. Familial adenomatous polyposis (APC) 175100
66. Familial dysautonomia 223900
67. Familial mediterranean fever (MEFV)
68. Fanconi anemia Group C (FANCC) 227645
69. Farber lipogranulomatosis (ASAH1) 228000
70. FG syndrome (MED12) 305450
71. Fragile X syndrome 300624
72. Gaucher disease 230800
73. Glyogen storage disease Type 1A (G6PC) 232200
74. Hypertrophic cardiomyopathy (20 gene panel)
75. Hemochromatosis
76. Huntington disease (HD, HTT, IT15) 143100
77. Infantile Spasms (ARX, CDKL5, SCN1A) 308350
78. Infertility (SYCP3) 270960
79. Intellectual disability (dominant, nonsyndromic) (SYNGAP1) 612621
80. Intracranial aneurysm (NTM, TGFBR3) 612161
81. Kabuki syndrome (MLL2, KDM6A) 147920
82. Kearns-Sayre syndrome (KSS) 530000
83. Kennedy disease (SBMA) 313200
84. Lactose intolerance (LCT) 223000
85. LADD syndrome (FGF10, FGFR2, FGFR3) 149730
86. Leber hereditary optic neuropathy (LHON) 535000
87. Leigh syndrome 256000
88. LEOPARD syndrome(PTPN11, RAF1, BRAF) 151100
89. Loeys-Dietz syndrome (TGFβR1, TGFβR2, TGFβ2, SMAD3) 609192 610168
90. Lujan-Fryns syndrome (MED12) 309520
91. Lynch syndrome/HNPCC (MLH1, MSH2, MSH6, PMS2, TACSTD1) 120435
92. Maple Syrup Urine disease 1B 248600
93. Marfan syndrome (FBN1) 154700
94. Masa syndrome (L1CAM gene sequencing)
95. Maternal Cell Contamination (MCC) studies
96. Medium chain acyl-CoA dehydrogenase (ACADM) 201450
97. Melanoma (Familial Malignant) (CDKN2A) 606719
98. Methyltetrahydrofolate reductase (MTHFR)
99. Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) 540000
100. Mitochondrial diseases panel
101. Mowat Wilson syndrome (ZEB2) 235730
102. Mucolipidosis type IV 252650
103. Multiple miscarriages (SYCP3) 604759
104. Multiple endocrine neoplasia, type 1 (MEN1) 131100
105. Multiple endocrine neoplasia, type 2 (RET) 171400
106. Myeloproliferative disease (JAK2, CALR, MPL) 254450
107. MYH associated polyposis (MUTYH) 604933
108. Myoclonic epilepsy with ragged red fibers (MERRF) 545000
109. Neurexin 1 (NRXN1) 600565
110. Neurofibromatosis type 1 (NF1)
111. Neurofibromatosis type 1-like syndrome (SPRED1)
112. Neurofibromatosis type 2 (NF2)
113. Neuroligin 3/4 300336 300427
114. Neuropathy w/ ataxia and retinitis pigmentosa (NARP) 551500
115. Niemann-Pick disease Type A 257220
116. Noonan syndrome (PTPN11, SOS1, RAF1, KRAS, NRAS, SHOC2) 163950
117. OpitzG/BBB syndrome (MID1) 300000
118. Opitz-Kaveggia syndrome (MED12) 305450
119. Osteogenesis imperfecta type I, II, III, IV (COL1A1, COL1A2) 166200 166210 259420 166220
120. Ovarian insufficiency (NR5A1) 612964
121. Paraganglioma-Pheocromocytoma syndromes (SDHB, SDHC, SDHD) 115310 605373 168000
122. Pelizaeus-Merzbacher disease (PLP1) 312080
123. Pendred syndrome (SLC26A4) 274600
124. Peutz-Jeghers syndrome (STK11) 175200
125. Phenylketonuria (PAH) 261600
126. Pitt Hopkins syndrome (TCF4) 610954
127. Pitt Hopkins-like syndrome (CNTNAP2) 610042
128. Polycystic kidney disease (PKHD1- autosomal recessive and PKD2- autosomal dominant)
129. Prader-Willi syndrome (SNRPN) 176270
130. Progressive external opthalmoplegia (CPEO)
131. Propionic acidemia (PCCA, PCCB)
132. Proteus syndrome (PTEN) 176920
133. PRSS1-related hereditary pancreatitis 167800
134. PTCHD1 300830
135. PTEN Hamartoma tumor syndromes 601728
136. Renpenning syndrome (PQBP1) 309500
137. Respiratory syncytial virus (molecular)
138. Retinitis pigmentosa sequencing panel (66 gene) 268000
139. Rett syndrome (MECP2) 312750
140. Rett syndrome – atypical (STK9/CDKL5) 312750
141. Rett syndrome – congenital variant form (FOXG1) 312750
142. Rett syndrome (classic, atypical, and congenital variants) panel
143. Rubinstein-Taybi syndrome (CREBBP, EP300) 180849
144. Sex-determining region Y (SRY)
145. SCN1A (sodium channel, voltage-gated, type I, alpha subunit) 182389
146. Skeletal dysplasia (173 gene panel)
147. Smith-Fineman-Myers syndrome (ATRX) 309580
148. Smith-Lemli-Opitz syndrome (DHCR7) 270400
149. SNP microarray
150. Sotos syndrome (NSD1) 117550
151. Spastic paraplegia 2 (PLP1) 312920
152. Spermatogenic failure (NR5A1) 613957
153. Spinal and bulbar muscular atrophy (Kennedy disease) 313200
154. Spinal muscular atrophy (SMA) 253300
155. SPINK1-related hereditary pancreatitis 167800
156. Spinocerebellar ataxia (Types 1, 2, 3, 6, 7, 8, 10, 12, 17) 164400
157. Stickler syndrome type I (COL2A1) 108300
158. Stickler syndrome type II (COL11A1) 604841
159. Stickler syndrome type III (COL11A2) 184840
160. Sutherland Haan syndrome (PQBP1) 309500
161. Tay-Sachs disease (HEXA) 272800
162. Thoracic Aortic Aneurysms/Dissections (ACTA2, FBN1, MYH11, MYLK, NTM, PRKG1, SMAD3, TGFβ2, TGFβR1, TGFβR2) 611788
163. Tuberous Sclerosis (TSC1, TSC2) 191100 613254
164. Uniparental disomy (chromosomes 7, 14, 15)
165. von-Hippel-Lindau disease (VHL) 193300
166. Waardenburg syndrome, types 1-4 (PAX3, MITF, SOX10, EDN3, EDNRB) 193500 193510 148820 277580
167. Wilson disease (ATP7B) 277900
168. Wiscott-Aldrich syndrome (WAS) 301000
169. X-inactivation studies
170. X-linked intellectual disability (IL1RAPL1) 300143 300271
171. X-linked intellectual disability (RAB39B) 300271
172. X-linked lymphoproliferative disease (SH2D1A) 308240
173. X-linked intellectual disability syndromes
174. X-linked intellectual disability/Epilepsy panels
175. XY Disorders of sex development (NR5A1) 612965
176. Y-chromosome detection (SRY)
177. Y-microdeletion studies
178. Zygosity testing
179. Others

1. Add in each of two vacutainer tubes with EDTA (purple top) about 8 mL of adult people blood. For children one single tube is enough. Mark the tubes with the patient’s full name and date of birth. Keep the sample at room temperature.
2. Insert the tubes in a sealed plastic bag and place them with enough material (paper towel) that can absorb the entire blood volume if the tubes break. For places far from Centro Gendiagnostik send plastic bag sealed in an envelope using domestic express delivery like Uno Express o Servi Entrega. Use FedEx if you live outside of Panama. Do not send the samples by the conventional post office. Send the samples to arrive only between Monday and Friday. Do not send samples on weekend or to arrive on weekend days.
3. Send the requisition form together with the sample and copy of payment verification. Fill the requisition form completely. Predictive tests for diseases (for example, Huntington´s Corea, exomic sequencing), informed consent is required.
4. Sample shipping address: Attention: Oriana Batista, M.Sc., Dr.rer.nat.
   Centro Gendiagnostik
   Avenida Central, Contiguo al Cuartel de Bomberos
   David, Provincia de Chiriquí
   Panamá
5. For questions, please contact Client Services at (00507) 7742871.

Descargar formulario de requisición para diagnóstico de ADN.