Testing resources
Testing Options for PK Deficiency
The following are some laboratories offering genetic testing for PK Deficiency in the form of next-generation sequencing (NGS) panels. This is not an exhaustive list of the NGS panels provided.
| Lab | Genetic Test | ID Code | Number of Genes | Genetic Counseling |
|---|---|---|---|---|
| ARUP Laboratories 800-242-2787 ltd.aruplab.com |
Hereditary Hemolytic Anemia Panel Sequencing | 2012052 | 28 genes | No |
| Cincinnati Children's 513-636-4474 testmenu.com/ cincinnatichildrens |
Hemolytic Anemia Gene Sequencing Panel | 7450867 | 38 genes | No |
| Invitae 800-436-3037 www.invitae.com |
Hereditary Hemolytic Anemia Panel | 55679 | 40 genes | No |
| Mayo Clinic Laboratories 800-533-1710 mayocliniclabs.com |
Hereditary Hemolytic Anemia Gene Panel | NHHA | 37 genes | No |
| Prevention Genetics 715-387-0484 www.preventiongenetics.com |
Hereditary Hemolytic Anemia Panel | 12041 | 34 genes | Yes |
| Revvity www.revvity.com |
Hereditary Anemia Panel | D4740 | 51 genes | No |
| Lab | ARUP Laboratories 800-242-2787 ltd.aruplab.com |
| Genetic Test | Hereditary Hemolytic Anemia Panel Sequencing |
| ID Code | 2012052 |
| Number of Genes | 28 genes |
| Genetic Counseling | No |
| Lab | Cincinnati Children's 513-636-4474 testmenu.com/ cincinnatichildrens |
| Genetic Test | Hemolytic Anemia Gene Sequencing Panel |
| ID Code | 7450867 |
| Number of Genes | 38 genes |
| Genetic Counseling | No |
| Lab | Invitae 800-436-3037 www.invitae.com |
| Genetic Test | Hereditary Hemolytic Anemia Panel |
| ID Code | 55679 |
| Number of Genes | 40 genes |
| Genetic Counseling | No |
| Lab | Mayo Clinic Laboratories 800-533-1710 mayocliniclabs.com |
| Genetic Test | Hereditary Hemolytic Anemia Gene Panel |
| ID Code | NHHA |
| Number of Genes | 37 genes |
| Genetic Counseling | No |
| Lab | Prevention Genetics 715-387-0484 www.prevention genetics.com |
| Genetic Test | Hereditary Hemolytic Anemia Panel |
| ID Code | 12041 |
| Number of Genes | 34 genes |
| Genetic Counseling | Yes |
| Lab | Revvity www.revvity.com |
| Genetic Test | Hereditary Anemia Panel |
| ID Code | D4740 |
| Number of Genes | 51 genes |
| Genetic Counseling | No |
Hear from Dr Richard van Wijk
Dr van Wijk talks about his experience diagnosing PK deficiency.